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النتائج لكل صفحة: 10

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Collection : The University Of Manchester

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Subjects: V-ATPase; ATP6V0C; VMA3

Source: Genomics England Res Consortium 2023 , ' ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy ' , Brain : a

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Academic Journal

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Subjects: Adolescent; Adult; Calcium Channels

Source: Deciphering Developmental Disorders Study 2018 , ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ' , American

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