DANIEL CALAME to Mutation, Missense
This is a "connection" page, showing publications DANIEL CALAME has written about Mutation, Missense.
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0.477
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De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome. Epilepsia. 2025 Sep; 66(9):e211-e218.
Score: 0.171
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125.
Score: 0.157
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures. Am J Hum Genet. 2025 Jul 03; 112(7):1722-1732.
Score: 0.043
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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803.
Score: 0.038
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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
Score: 0.037
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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
Score: 0.032