Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.H390R
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TYR

NM_000372.5:p.H390R

Associated Papers

The degradation of TYR variants derived from Chinese OCA families is mediated by the ERAD and ERLAD pathway.

Wang X et al.

Gene, 2025

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

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Zhong Z et al.

Pigment Cell & Melanoma Research, 2019

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