Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (Record no. 25073593)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02020 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517042350.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201612s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2015.157 |
| 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 | Seco, Celia Zazo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20161213 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Apr 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 542-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | COS Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chlorocebus aethiops |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deafness |
| 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 | Hair Cells, Auditory |
| General subdivision | metabolism |
| 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 | Integrin alpha2beta1 |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Binding |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giese, Arnaud P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shafique, Sobia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schraders, Margit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oonk, Anne M M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grossheim, Mike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oostrik, Jaap |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strom, Tim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hegde, Rashmi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Wijk, Erwin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frolenkov, Gregory I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Azam, Maleeha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Helger G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Free, Rolien H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Saima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verheij, Joke B G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Admiraal, Ronald J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Qamar, Raheel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahmed, Zubair M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Hannie |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 24 |
| -- | no. 4 |
| -- | p. 542-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2015.157">https://doi.org/10.1038/ejhg.2015.157</a> |
| Public note | Available from publisher's website |
No items available.