Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.G588S
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COL6A2

NM_001849.4:p.G588S

Associated Papers

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Smith CEL et al.

Journal of Medical Genetics, 2024

38458752 (PubMed )
Supplement: jmg-2023-109728supp001.pdf

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

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