Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.D1347E
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COL4A3

NM_000091.5:p.D1347E

Associated Papers

Long-term outcome among females with Alport syndrome from a single pediatric center.

Goka S et al.

Pediatric Nephrology (berlin, Germany), 2021

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Longo I et al.

Kidney International, 2002

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L et al.

Journal of the American Society of Nephrology : Jasn, 2001

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Shulman C et al.

Kidney Medicine, 0

33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."