Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.R1450*
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COL4A3

NM_000091.5:p.R1450*

Associated Papers

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

Brashear AM et al.

Scientific Reports, 2025

41152280 (PubMed )
Supplement: 41598_2025_21421_MOESM1_ESM.xlsx › Sheet1

Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.

Lujinschi ȘN et al.

Genes, 2024

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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