Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I381S
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ATP7B

NM_000053.4:p.I381S

Associated Papers

Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.

Khdair Ahmad F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2025

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ et al.

Brain : a Journal of Neurology, 2013

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