CARLOS BACINO to Mutation, Missense
This is a "connection" page, showing publications CARLOS BACINO has written about Mutation, Missense.
Connection Strength
1.030
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WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar; 158A(3):622-5.
Score: 0.257
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Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 01; 197(1):e63849.
Score: 0.154
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441.
Score: 0.114
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.114
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.085
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WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24.
Score: 0.067
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Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15.
Score: 0.052
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Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies. J Gen Physiol. 2026 Sep 07; 158(5).
Score: 0.044
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Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul; 27(7):705-10.
Score: 0.044
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63.
Score: 0.030
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.027
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.024
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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102.
Score: 0.017