Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.G47S
Back to variants list

TYR

NM_000372.5:p.G47S

Associated Papers

Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment.

Sun G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Khordadpoor-Deilamani F et al.

Journal of Human Genetics, 2016

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Khordadpoor-Deilamani F et al.

Molecular Vision, 2015

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."