DARYL SCOTT to Loss of Function Mutation
This is a "connection" page, showing publications DARYL SCOTT has written about Loss of Function Mutation.
Connection Strength
0.751
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New genotype-phenotype correlations and management recommendations for individuals with RERE variants. Genet Med. 2026 Jun; 28(6):102580.
Score: 0.220
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 01; 197(1):e63868.
Score: 0.196
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Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2025 01; 197(1):e63845.
Score: 0.196
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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468.
Score: 0.139