Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.G420R
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UNC13C

NM_001080534.3:p.G420R

Associated Papers

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Müller F et al.

Biochemistry and Biophysics Reports, 2026

41399760 (PubMed )
Supplement: mmc1.xlsx › gnomAD_v4.1.0

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
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