Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.G346fs
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TYR

NM_000372.5:p.G346fs

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.

Si S et al.

Pigment Cell & Melanoma Research, 2023

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