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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PDHA1
Variant:
p.R311_S312insAT
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PDHA1
NM_000284.4:p.R311_S312insAT
hg38:chrX:19358947 A>ANNNNNN
Frequencies & domains
Associated Papers
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation,
2001
11317352 (PubMed
)
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