Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. (Record no. 25858179)

MARC details
000 -LEADER
fixed length control field 03893 a2201273 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517085436.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201709s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2083
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/ddw094
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name de la Hoya, Miguel
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170925
245 00 - TITLE STATEMENT
Title Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. 06 2016
300 ## - PHYSICAL DESCRIPTION
Extent 2256-2268 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alternative Splicing
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element BRCA1 Protein
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Breast Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Regulation, Neoplastic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ovarian Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splicing
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tumor Suppressor Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soukarieh, Omar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name López-Perolio, Irene
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vega, Ana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walker, Logan C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Ierland, Yvette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baralle, Diana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santamariña, Marta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lattimore, Vanessa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wijnen, Juul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Whiley, Philip
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blanco, Ana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raponi, Michela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hauke, Jan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wappenschmidt, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Becker, Alexandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hansen, Thomas V O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Behar, Raquel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Investigators, KConFaB
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Niederacher, Diether
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arnold, Norbert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dworniczak, Bernd
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Steinemann, Doris
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Faust, Ulrike
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rubinstein, Wendy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hulick, Peter J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Houdayer, Claude
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Caputo, Sandrine M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Castera, Laurent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pesaran, Tina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chao, Elizabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brewer, Carole
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Southey, Melissa C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Asperen, Christi J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Singer, Christian F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sullivan, Jan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Poplawski, Nicola
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mai, Phuong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Peto, Julian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Johnson, Nichola
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Burwinkel, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Surowy, Harald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bojesen, Stig E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Flyger, Henrik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lindblom, Annika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Margolin, Sara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chang-Claude, Jenny
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rudolph, Anja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Radice, Paolo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Galastri, Laura
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Olson, Janet E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hallberg, Emily
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Giles, Graham G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Milne, Roger L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Andrulis, Irene L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Glendon, Gord
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hall, Per
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Czene, Kamila
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blows, Fiona
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shah, Mitul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Qin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dennis, Joe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Michailidou, Kyriaki
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McGuffog, Lesley
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bolla, Manjeet K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Antoniou, Antonis C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Easton, Douglas F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Couch, Fergus J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tavtigian, Sean
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vreeswijk, Maaike P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parsons, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meeks, Huong D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martins, Alexandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goldgar, David E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Spurdle, Amanda B
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 25
-- no. 11
-- p. 2256-2268
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddw094">https://doi.org/10.1093/hmg/ddw094</a>
Public note Available from publisher's website

No items available.