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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A3

Variant:p.V313I

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COL4A3

NM_000091.5:p.V313I

hg38:chr2:227256346 G>A

Associated Papers

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Gibson JT et al.

Scientific Reports, 2022

35177655 (PubMed )

Supplement: 41598_2022_6525_MOESM1_ESM.docx

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