Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.Q399delFs
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TYR

NM_000372.5:p.Q399delFs

Associated Papers

Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Zhong Z et al.

Frontiers in Genetics, 2022

35923705 (PubMed )
Supplement: DataSheet1.docx

Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.

Ganguly K et al.

Annals of Human Genetics, 2020

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

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A et al.

Journal of Dermatological Science, 2011

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