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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

GENES (2022)

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders

Aida M. Bertoli-Avella et al.

Summary: The study identified six novel gene-disease associations and supported the causality of 31 additional candidate genes with various phenotypes, including syndromic/nonsyndromic NDD/ID, oral-facial-digital syndrome, cardiomyopathies, malformation syndrome, short stature, skeletal dysplasia, and ciliary dyskinesia. The results demonstrate the value of data repositories for discovering and confirming gene-disease associations.

GENETICS IN MEDICINE (2021)

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Article Biochemistry & Molecular Biology

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Malgorzata Rydzanicz et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

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Article Genetics & Heredity

Phenotypic heterogeneity in study populations may significantly confound the results of genetic association studies on alcohol dependence

M. Adam Ali et al.

PSYCHIATRIC GENETICS (2015)

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Article Biochemistry & Molecular Biology

Alcohol dependence is associated with the ZNF699 gene, a human locus related to Drosophila hangover, in the Irish affected sib pair study of alcohol dependence (IASPSAD) sample

B. P. Riley et al.

MOLECULAR PSYCHIATRY (2006)

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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

相关参考文献

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Phenotypic heterogeneity in study populations may significantly confound the results of genetic association studies on alcohol dependence

Alcohol dependence is associated with the ZNF699 gene, a human locus related to Drosophila hangover, in the Irish affected sib pair study of alcohol dependence (IASPSAD) sample

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