Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.L18_L21del0
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COL4A3

NM_000091.5:p.L18_L21del0

Associated Papers

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.

Zhang Y et al.

Pediatric Nephrology (berlin, Germany), 2021

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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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."