SI c.730C>T ;(p.Q244*)

Variant ID: 3-164783126-G-A

NM_001041.3(SI):c.730C>T;(p.Q244*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kim, Kun-Yong KY; Hysolli, Eriona E; Park, In-Hyun IH
Publication Date: 2011-08-23

Variant appearance in text: SI: Q244X
PubMed Link: 21807996
Variant Present in the following documents:
  • Main text
View BVdb publication page