Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.E216_W223delFs
Back to variants list

TYRP1

NM_000550.3:p.E216_W223delFs

Associated Papers

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Gul H et al.

Annals of Human Genetics, 2019

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

Shahzad M et al.

Scientific Reports, 2017

28266639 (PubMed )
Supplement: srep44185-s1.pdf

Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.

Kausar T et al.

The Journal of Investigative Dermatology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."