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.
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Brain Sciences, 2021
35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S1._137variants
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
Kherraf ZE et al.
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Integrative data mining highlights candidate genes for monogenic myopathies.
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Supplement: pone.0110888.s004.xlsx › Table_S4
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