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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PDX1
Variant:
p.A104_G107delFs
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PDX1
NM_000209.4:p.A104_G107delFs
hg38:chr13:27920447 AGCCGAGCCGG>A
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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