Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.Q376*
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TYR

NM_000372.5:p.Q376*

Associated Papers

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

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

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

Forshew T et al.

Clinical Genetics, 2005

The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.

Oetting WS

Pigment Cell Research, 2000

Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).

Oetting WS et al.

Pigment Cell Research, 1994

Molecular genetics of oculocutaneous albinism.

Spritz RA

Human Molecular Genetics, 1994

Molecular genetics of oculocutaneous albinism.

Spritz RA

Seminars in Dermatology, 1993

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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."