Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.C157F
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ATP7B

NM_000053.4:p.C157F

Associated Papers

Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.

You JY et al.

World Journal of Clinical Pediatrics, 2024

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

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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