Varaico: Literature-Extracted Genetic Variants

Gene:COL4A6
Variant:p.G486S
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COL4A6

NM_033641.4:p.G486S

Associated Papers

Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants.

Owrang D et al.

Qjm : Monthly Journal of the Association of Physicians, 2025

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.

Jagannath K et al.

Molecular Biology Reports, 2025

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

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