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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFV2

Variant:p.R222C

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NDUFV2

NM_021074.5:p.R222C

hg38:chr18:9134193 C>T

Associated Papers

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy.

Caliskan E et al.

Molecular Syndromology, 2024

39634239 (PubMed )

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