Associated Papers
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
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Muscle & Nerve, 2022
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng YX et al.
Medicine, 2022
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
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Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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