PC c.962A>G ;(p.Y321C)

Variant ID: 11-66636377-T-C

NM_001040716.1(PC):c.962A>G;(p.Y321C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

American Journal Of Medical Genetics. Part A
Aldinger, Kimberly A KA; Kogan, Jillene J; Kimonis, Virginia V; Fernandez, Bridget B; Horn, Denise D; Klopocki, Eva E; Chung, Brian B; Toutain, Annick A; Weksberg, Rosanna R; Millen, Kathleen J KJ; Barkovich, A James AJ; Dobyns, William B WB
Publication Date: 2013-01

Variant appearance in text: PC: 962A>G
PubMed Link: 23225497
Variant Present in the following documents:
  • Main text
View BVdb publication page