Associated Papers
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review.
Ma J et al.
Human Mutation, 2024
40225911 (PubMed )
Supplement: 4678670.f1.xlsx › Supplementary_Table
Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy.
Kadwa RA
Neuropediatrics, 2020
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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