PC c.2786C>G ;(p.A929G)

Variant ID: 11-66617520-G-C

NM_001040716.1(PC):c.2786C>G;(p.A929G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.

Journal Of Child Neurology
Walker, Melissa A MA; Mohler, Kyle P KP; Hopkins, Kyle W KW; Oakley, Derek H DH; Sweetser, David A DA; Ibba, Michael M; Frosch, Matthew P MP; Thibert, Ronald L RL
Publication Date: 2016-08

Variant appearance in text: PC: 2786C>G; A929G
PubMed Link: 27095821
Variant Present in the following documents:
  • Main text
View BVdb publication page