Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P992P
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ATP7B

NM_000053.4:p.P992P

Associated Papers

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Zhou X et al.

Frontiers in Genetics, 2020

33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A et al.

Annals of Human Genetics, 2013

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