TYR c.1037G>T ;(p.G346V)

Variant ID: 11-88960991-G-T

NM_000372.4(TYR):c.1037G>T;(p.G346V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: TYR: 1037G>T
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Genes
Sajid, Zureesha Z; Yousaf, Sairah S; Waryah, Yar M YM; Mughal, Tauqeer A TA; Kausar, Tasleem T; Shahzad, Mohsin M; Rao, Ali R AR; Abbasi, Ansar A AA; Shaikh, Rehan S RS; Waryah, Ali M AM; Riazuddin, Saima S; Ahmed, Zubair M ZM
Publication Date: 2021-03-28

Variant appearance in text: TYR: 1037G>T
PubMed Link: 33800529
Variant Present in the following documents:
  • Main text
View BVdb publication page