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13. De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

14. Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy

17. Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

23. Variation in NPC1, the gene encoding Niemann–Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population

27. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

41. A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children

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