Associated Papers
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P et al.
Brain : a Journal of Neurology, 2024
38366623 (PubMed )
Supplement: awae046_supplementary_data.zip › brain-2023-01831-File011.xlsx › F2.II.1
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski W et al.
European Journal of Human Genetics : Ejhg, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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