Associated Papers
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
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Computational and Structural Biotechnology Journal, 2023
38074473 (PubMed )
Supplement: mmc1.docx
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
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A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
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Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Feldmann D et al.
American Journal of Medical Genetics. Part A, 2004
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