Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing

Daniel Bengl(University of Würzburg), Michaela A. H. Hofrichter(University of Würzburg), Marcus Dittrich(University of Würzburg), Wafaa Shehata-Dieler, Christian W. Remmele(University of Würzburg), Sophie Flandin, Clemens Grimm(University of Würzburg), Asuman Koparır(University of Würzburg), Wahyu Eka Prastyo(University of Würzburg), Thomas Haaf(University of Würzburg)
BMC Medical Genomics
March 31, 2025
Cited by 2


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