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missense variant
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MUDr. Simona Poisson Marková Ph.D.
External person at Second Faculty of Medicine
5 publications
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publication
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
Second Faculty of Medicine
publication
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy
2018 |
Second Faculty of Medicine
publication
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients
2016 |
Second Faculty of Medicine
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