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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
- All authors
- Boer, E. de; Yaldiz, B.; Denomme-Pichon, A.S.; Matalonga, L.; Laurie, S.; Steyaert, W.; Reuver, R. de; Gilissen, C.; Kwint, M.; Pfundt, R.; Verloes, A.; Willemsen, M.A.A.P.; Vries, B.B.A. de; Vitobello, A.; Kleefstra, T.; Vissers, L.E.L.M.; Solve-RD SNV-indel Working Grp; Solve-RD-DITF-ITHACA
- Date
- 2021-12-09
- Volume
- 65
- Issue
- 1