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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A5

Variant:p.L344_V345Splc

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COL4A5

NM_033380.3:p.L344_V345Splc

hg38:chrX:108586614 G>A

Associated Papers

X-linked Alport syndrome caused by splicing mutations in COL4A5.

Nozu K et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2014

25183659 (PubMed )

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