TYR c.1413G>C ;(p.A471=)

Variant ID: 11-89028357-G-C

NM_000372.4(TYR):c.1413G>C;(p.A471=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports
Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,
Publication Date: 2017-03-07

Variant appearance in text: TYR: Ala471Ala; rs3913544
PubMed Link: 28266639
Variant Present in the following documents:
  • srep44185-s1.pdf
View BVdb publication page