Associated Papers
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC et al.
International Journal of Molecular Sciences, 2022
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Li X et al.
Molecular Vision, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.
Hong HM et al.
Human Genetics, 2010
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
Yang JJ et al.
Audiology & Neuro-otology, 2007
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