Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q717*
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ATP7B

NM_000053.4:p.Q717*

Associated Papers

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

KMD: Korean Mutation Database for genes related to diseases.

Park MH et al.

Human Mutation, 2012

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

Lee BH et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

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