DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Marin-Valencia I, Novarino G, Johansen A. , et al.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet 2018;
55 (01) 48-54
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