Associated Papers
Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.
Andres EM et al.
Brain Sciences, 2021
35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S1._137variants
Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target.
Larose H et al.
Haematologica, 2021
Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.
Diao H et al.
Medicine, 2018
30431579 (PubMed )
Supplement: medi-97-e13117-s002.xlsx › Sheet1
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants
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