Associated Papers
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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