Varaico: Literature-Extracted Genetic Variants

Gene:UNC13A
Variant:p.A1084T
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UNC13A

NM_001080421.3:p.A1084T

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

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma.

Wang A et al.

Nature Communications, 2018

29497050 (PubMed )
Supplement: 41467_2018_3276_MOESM5_ESM.xlsx › ___1
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