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)
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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 |
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Personal name | Walker, Logan C |
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Personal name | van Ierland, Yvette |
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Personal name | Baralle, Diana |
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Personal name | Lattimore, Vanessa |
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Personal name | Whiley, Philip |
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Personal name | Blanco, Ana |
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Personal name | Raponi, Michela |
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Personal name | Hauke, Jan |
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Personal name | Wappenschmidt, Barbara |
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Personal name | Becker, Alexandra |
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Personal name | Hansen, Thomas V O |
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Personal name | Behar, Raquel |
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Personal name | Investigators, KConFaB |
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Personal name | Niederacher, Diether |
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Personal name | Blows, Fiona |
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Personal name | Wang, Qin |
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Personal name | Vreeswijk, Maaike P |
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Personal name | Parsons, Michael |
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Personal name | Meeks, Huong D |
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Personal name | Martins, Alexandra |
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Personal name | Goldgar, David E |
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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.