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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COL4A5
Variant:
p.S879*
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COL4A5
NM_033380.3:p.S879*
hg38:chrX:108620385 C>A
Frequencies & domains
Associated Papers
Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.
Watanabe H et al.
Human Genome Variation,
2023
36732323 (PubMed
)
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