Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M89V
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ATP7B

NM_000053.4:p.M89V

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

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Chen HJ et al.

Brain : a Journal of Neurology, 2019

31605140 (PubMed )
Supplement: awz313_supplementary_materials.zip › awz313-suppl_data › Supplementary_materials.pdf
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