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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NDUFS1
Variant:
p.A524V
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NDUFS1
NM_005006.7:p.A524V
hg38:chr2:206130225 G>A
Frequencies & domains
Associated Papers
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Amiel J et al.
Prenatal Diagnosis,
2001
11494300 (PubMed
)
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