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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ELOVL4
Variant:
p.K307R
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ELOVL4
NM_022726.4:p.K307R
hg38:chr6:79916633 T>C
Frequencies & domains
Associated Papers
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Zhang K et al.
Nature Genetics,
2001
11138005 (PubMed
)
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