Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.S125F
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PRODH

NM_016335.6:p.S125F

Associated Papers

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.

Sharo AG et al.

Genome Medicine, 2023

37443081 (PubMed )
Supplement: 13073_2023_1199_MOESM7_ESM.xlsx › HGMD
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