Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P767S
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ATP7B

NM_000053.4:p.P767S

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

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Research Square, 2023

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Wang Y et al.

Frontiers in Genetics, 2023

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

Six novel ATP7B mutations in Thai patients with Wilson disease.

Panichareon B et al.

European Journal of Medical Genetics, 0

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