Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V272I
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ATP7B

NM_000053.4:p.V272I

Associated Papers

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

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Jang JH et al.

Journal of Human Genetics, 2017

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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