Publications:

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: OCA2: A355A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

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Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science

Hawkes, Jason E JE; Cassidy, Pamela B PB; Manga, Prashiela P; Boissy, Raymond E RE; Goldgar, David D; Cannon-Albright, Lisa L; Florell, Scott R SR; Leachman, Sancy A SA

Publication Date: 2013-01

Variant appearance in text: OCA2: A355A

PubMed Link: 23103111

Variant Present in the following documents:

• Main text

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