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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
AMER3
Variant:
p.R318H
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AMER3
NM_152698.3:p.R318H
hg38:chr2:130763025 G>A
Frequencies & domains
Associated Papers
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Li H et al.
Human Molecular Genetics,
2020
31915829 (PubMed
)
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