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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COL4A5
Variant:
p.G626A
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COL4A5
NM_033380.3:p.G626A
hg38:chrX:108598799 G>C
Frequencies & domains
Associated Papers
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM et al.
Human Mutation,
2001
11462238 (PubMed
)
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