Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Fig___Tables.pdf
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife, 2018
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
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