Varaico: Literature-Extracted Genetic Variants

Gene:UNC13B
Variant:p.H1243R
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UNC13B

NM_001371189.2:p.H1243R

Associated Papers

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Asadollahi R et al.

Nature Genetics, 2025

41125872 (PubMed )
Supplement: 41588_2025_2361_MOESM6_ESM.xlsx › VUS
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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."