Varaico: Literature-Extracted Genetic Variants

Gene:DHPS
Variant:p.V127I
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DHPS

NM_001930.4:p.V127I

Associated Papers

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.

Blue EE et al.

Rare (amsterdam, Netherlands), 2024

39421685 (PubMed )
Supplement: NIHMS2019246-supplement-MMC1.xlsx › SupplementalTable1
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