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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NIPAL4
Variant:
p.N31I
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NIPAL4
NM_001099287.2:p.N31I
hg38:chr5:157463148 A>T
Frequencies & domains
Associated Papers
Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
Li S et al.
Febs Letters,
2020
31595490 (PubMed
)
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