Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q707_L708Splc
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ATP7B

NM_000053.4:p.Q707_L708Splc

Associated Papers

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Kumar M et al.

Movement Disorders Clinical Practice, 2025

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Zhang S et al.

Translational Neurodegeneration, 2022

Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.

Li X et al.

Human Mutation, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."