Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.T788I
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CP

NM_000096.4:p.T788I

Associated Papers

Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3.

Li XY et al.

Parkinsonism & Related Disorders, 2020

Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

Paradisi I et al.

European Journal of Medical Genetics, 2015

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

Simsek Papur O et al.

European Journal of Medical Genetics, 2013

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.

Zali N et al.

Hepatitis Monthly, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."