Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-X_hemiz.
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
Genome-wide prediction of disease variant effects with a deep protein language model.
Brandes N et al.
Nature Genetics, 2023
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
Habibzadeh P et al.
Frontiers in Neurology, 2019
31551910 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C et al.
Amino Acids, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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