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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A3

Variant:p.D1486N

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COL4A3

NM_000091.5:p.D1486N

hg38:chr2:227307913 G>A

Associated Papers

A pedigree with COL4A5 mutation presenting with Alport syndrome and focal segmental glomerulosclerosis lesions: a case report.

Zou H et al.

American Journal of Translational Research, 2022

36105030 (PubMed )

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