Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.A241T
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TYR

NM_000372.5:p.A241T

Associated Papers

Computational analysis of the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in TYR gene impacting human tyrosinase protein and the protein stability.

Fan W et al.

Plos One, 2024

Comparison of potential inhibitors and targeting fat mass and obesity-associated protein causing diabesity through docking and molecular dynamics strategies.

Kumar SU et al.

Journal of Cellular Biochemistry, 2021

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

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Wang X et al.

Bmc Ophthalmology, 2017

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L et al.

Journal of Human Genetics, 2017

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

Lin YY et al.

European Journal of Dermatology : Ejd, 0

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