Associated Papers
Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss.
Ji H et al.
Acta Biochimica Et Biophysica Sinica, 2024
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 2024
38791074 (PubMed )
Supplement: biomedicines-12-01112-s001.zip › biomedicines-2972903-SM_final › Supplementary_files › SUPPLEMENTARY_Table_S1.pdf
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Li TC et al.
Molecular Medicine Reports, 2015
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
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Richard G et al.
The Journal of Investigative Dermatology, 2003
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
López-Bigas N et al.
Human Mutation, 2002
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