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_MOESM1_ESM.pdf
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N et al.
Breast Cancer Research : Bcr, 2018
29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Select a paper to view details