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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PEX10
Variant:
p.L272L
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PEX10
NM_002617.4:p.L272L
hg38:chr1:2406582 G>A
Frequencies & domains
Associated Papers
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
Okumoto K et al.
Human Molecular Genetics,
1998
9700193 (PubMed
)
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