Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. (Record no. 30843151)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02321 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518094910.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202007s 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.2020.03.009 |
| 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 | Muir, Alison M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200727 |
| 245 00 - TITLE STATEMENT | |
| Title | Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 05 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 623-631 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 | Active Transport, Cell Nucleus |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | Brain |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Nucleus |
| General subdivision | metabolism |
| 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 | Dendrites |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila melanogaster |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Abnormalities |
| 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 | Fibroblasts |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Defects, Congenital |
| General subdivision | genetics |
| 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 | 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 | Jews |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Loss of Function Mutation |
| General subdivision | genetics |
| 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 | Nuclear Pore Complex Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | beta Karyopherins |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen, Jennifer L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sheppard, Sarah E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guttipatti, Pavithran |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lo, Tsz Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weed, Natalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doherty, Dan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | DeMarzo, Danielle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fagerberg, Christina R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kjærsgaard, Lars |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Larsen, Martin J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rump, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Löhner, Katharina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hirsch, Yoel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeevi, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zackai, Elaine H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhoj, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Song, Yuanquan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 106 |
| -- | no. 5 |
| -- | p. 623-631 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2020.03.009">https://doi.org/10.1016/j.ajhg.2020.03.009</a> |
| Public note | Available from publisher's website |
No items available.