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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COL4A4
Variant:
p.E964*
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COL4A4
NM_000092.5:p.E964*
hg38:chr2:227052383 C>A
Frequencies & domains
Associated Papers
An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.
Zhang L et al.
Bmc Nephrology,
2020
32703181 (PubMed
)
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