Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
2019 | journal article. A publication with affiliation to the University of Göttingen.
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Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al. (2019)
Journal of Medical Genetics, 56(4) pp. 261-264. DOI: https://doi.org/10.1136/jmedgenet-2018-105470
