Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R758M
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ATP7B

NM_000053.4:p.R758M

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

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease.

Wilson AM et al.

Biochimie, 2009

[Study on mutation of exon 8 of Wilson's disease gene]

Xu P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999

[Study on mutation of exon 8 of Wilson's disease gene].

Xu P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

Chuang LM et al.

Journal of Medical Genetics, 1996

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