Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.P96L
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SORD

NM_003104.6:p.P96L

Associated Papers

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Cortese A et al.

Brain : a Journal of Neurology, 2025

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
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