Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R919Q
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ATP7B

NM_000053.4:p.R919Q

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.

Lorente-Arencibia P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2022

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