Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.R292H
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UNC13C

NM_001080534.3:p.R292H

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

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S13T1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."