Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
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Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML
- 26 (6) 1070-1077 [2017-03-15; online 2017-02-01]
Bioinformatics Compute and Storage [Service]
Clinical Genomics Uppsala [Collaborative]
NGI Uppsala (Uppsala Genome Center) [Collaborative]
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DOI 10.1093/hmg/ddx017
Crossref 10.1093/hmg/ddx017