OCA2 c.987C>A ;(p.T329=)

Variant ID: 15-28259979-G-T

NM_000275.2(OCA2):c.987C>A;(p.T329=)

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: OCA2: 987C>A
PubMed Link: 28266639
Variant Present in the following documents:
  • Main text
  • srep44185-s1.pdf
  • srep44185.pdf
View BVdb publication page