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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EXOC5
Variant:
p.Q97*
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EXOC5
NM_006544.4:p.Q97*
hg38:chr14:57244341 G>A
Frequencies & domains
Associated Papers
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Wyatt A et al.
Human Mutation,
2008
18781617 (PubMed
)
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