Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.S50*
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TYR

NM_000372.5:p.S50*

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Oetting WS et al.

Human Mutation, 1999

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A).

Falik-Borenstein TC et al.

Prenatal Diagnosis, 1995

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

Gershoni-Baruch R et al.

American Journal of Human Genetics, 1994

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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."