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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CHM
Variant:
p.E177K
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CHM
NM_000390.4:p.E177K
hg38:chrX:85963838 C>T
Frequencies & domains
Associated Papers
In silico data analyses of the hotspot mutations of CHM gene in choroideremia disease.
Imani S et al.
Data in Brief,
2018
29900297 (PubMed
)
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