Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.Q10*
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COL4A3

NM_000091.5:p.Q10*

Associated Papers

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2

The Phenotypic Spectrum of COL4A3 Heterozygotes.

Solanki KV et al.

Kidney International Reports, 2023

37849993 (PubMed )
Supplement: mmc1.pdf

Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Wildin RS et al.

Journal of Personalized Medicine, 2022

36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf

The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.

Ćomić J et al.

Frontiers in Medicine, 2022

36117978 (PubMed )
Supplement: Data_Sheet_1.PDF
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