LINDSAY BURRAGE to Loss of Function Mutation
This is a "connection" page, showing publications LINDSAY BURRAGE has written about Loss of Function Mutation.
Connection Strength
0.320
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024 May 03; 147(5):1837-1855.
Score: 0.194
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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: 0.049
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.039
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Score: 0.037