Mengqi Ma to Mutation, Missense
This is a "connection" page, showing publications Mengqi Ma has written about Mutation, Missense.
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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: 0.616
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The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Hum Mol Genet. 2023 03 06; 32(6):984-997.
Score: 0.143
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760.
Score: 0.038
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
Score: 0.038