Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.S2R
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SDHAF1

NM_001042631.3:p.S2R

Associated Papers

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

Nicolle R et al.

Bmc Medical Genomics, 2023

37344844 (PubMed )
Supplement: 12920_2023_1582_MOESM2_ESM.xls › Feuil1
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