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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
BCKDHA
Variant:
p.A313delFs
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BCKDHA
NM_000709.4:p.A313delFs
hg38:chr19:41422710 AG>A
Frequencies & domains
Associated Papers
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Henneke M et al.
Human Mutation,
2003
14517957 (PubMed
)
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