Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P955_N956Splc
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ATP7B

NM_000053.4:p.P955_N956Splc

Associated Papers

Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

Nurm M et al.

European Journal of Human Genetics : Ejhg, 2025

Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.

Al-Obaidi RG et al.

Saudi Medical Journal, 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 spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease.

Sipilä JOT et al.

Journal of the Neurological Sciences, 2023

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