Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.G478Splc
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SDHA

NM_004168.4:p.G478Splc

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.

Trotman J et al.

British Journal of Cancer, 2022

35449451 (PubMed )
Supplement: 41416_2022_1788_MOESM4_ESM.pdf
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