Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.A1384V
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COL4A4

NM_000092.5:p.A1384V

Associated Papers

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.

Cerkauskaite-Kerpauskiene A et al.

International Journal of Molecular Sciences, 2025

40806767 (PubMed )
Supplement: ijms-26-07639-s001.zip › ijms-3755155-supplementary.pdf

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

Cerkauskaite A et al.

Frontiers in Medicine, 2022

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
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