KIT c.421C>G ;(p.P141A)

Variant ID: 4-55564533-C-G

NM_000222.2(KIT):c.421C>G;(p.P141A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

European Journal Of Human Genetics : Ejhg
Boccuto, Luigi L; Lauri, Maria M; Sarasua, Sara M SM; Skinner, Cindy D CD; Buccella, Daniela D; Dwivedi, Alka A; Orteschi, Daniela D; Collins, Julianne S JS; Zollino, Marcella M; Visconti, Paola P; Dupont, Barb B; Tiziano, Danilo D; Schroer, Richard J RJ; Neri, Giovanni G; Stevenson, Roger E RE; Gurrieri, Fiorella F; Schwartz, Charles E CE
Publication Date: 2013-03

Variant appearance in text: KIT: 421C>G; Pro141Ala
PubMed Link: 22892527
Variant Present in the following documents:
  • Main text
View BVdb publication page