Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.L1474_F1475delFs
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COL4A3

NM_000091.5:p.L1474_F1475delFs

Associated Papers

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

The Phenotypic Spectrum of COL4A3 Heterozygotes.

Solanki KV et al.

Kidney International Reports, 2023

37849993 (PubMed )
Supplement: mmc1.pdf

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP et al.

European Journal of Human Genetics : Ejhg, 2017

28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
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