VISHNU CUDDAPAH to Mutation
This is a "connection" page, showing publications VISHNU CUDDAPAH has written about Mutation.
Connection Strength
0.315
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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet. 2014 Mar; 51(3):152-8.
Score: 0.157
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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. Am J Hum Genet. 2022 12 01; 109(12):2253-2269.
Score: 0.072
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Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Am J Med Genet A. 2021 06; 185(6):1700-1711.
Score: 0.064
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Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders. J Hum Genet. 2026 Apr; 71(4):187-193.
Score: 0.022