De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. (Record no. 26474924)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02397 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517120238.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2016.08.017 |
| 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 | Shashi, Vandana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170524 |
| 245 00 - TITLE STATEMENT | |
| Title | De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Oct 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 991-999 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eyebrows |
| General subdivision | abnormalities |
| 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 | Hypertelorism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 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 | Megalencephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Hypotonia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Repressor Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pena, Loren D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Katherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burton, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hempel, Maja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schoch, Kelly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walkiewicz, Magdalena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McLaughlin, Heather M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cho, Megan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stong, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hickey, Scott E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shuss, Christine M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freemark, Michael S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bellet, Jane S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keels, Martha Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonner, Melanie J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El-Dairi, Maysantoine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Butler, Megan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kranz, Peter G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stumpel, Constance T R M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klinkenberg, Sylvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oberndorff, Karin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alawi, Malik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santer, Rene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petrovski, Slavé |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuismin, Outi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Korpi-Heikkilä, Satu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pietilainen, Olli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aarno, Palotie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurki, Mitja I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Need, Anna C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldstein, David B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kortüm, Fanny |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 99 |
| -- | no. 4 |
| -- | p. 991-999 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2016.08.017">https://doi.org/10.1016/j.ajhg.2016.08.017</a> |
| Public note | Available from publisher's website |
No items available.