Associated Papers
A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.
Kaas M et al.
Molecular Psychiatry, 2026
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
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Supplement: MCO2-6-e70394-s001.xlsx › TableS7
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
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Supplement: DataSheet1.xlsx › Supp_table_3
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