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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
POTEE
Variant:
p.A90D
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POTEE
NM_001083538.3:p.A90D
hg38:chr2:131218671 C>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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