HUGO BELLEN to Genetic Predisposition to Disease
This is a "connection" page, showing publications HUGO BELLEN has written about Genetic Predisposition to Disease.
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0.904
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Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. Hum Mol Genet. 2020 06 03; 29(9):1537-1546.
Score: 0.320
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579.
Score: 0.320
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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: 0.104
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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 10 04; 103(4):568-578.
Score: 0.071
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
Score: 0.070
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The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders. Cell. 2018 07 26; 174(3):505-520.
Score: 0.018