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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COL18A1
Variant:
p.G414A
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COL18A1
NM_001379500.1:p.G414A
hg38:chr21:45478346 G>C
Frequencies & domains
Associated Papers
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
Boye E et al.
Human Mutation,
1995
7599631 (PubMed
)
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