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2018 | Journal Article | IST-REx-ID: 691 |
I. Marin Valencia et al., “A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features,” Journal of Medical Genetics, vol. 55, no. 1, pp. 48–54, 2018.View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC