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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007. Epub 2016 Oct 20.
Am J Hum Genet. 2016.
PMID: 27773428
Free PMC article.
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM; FORGE Canada Consortium; Poulter MO, Hegele RA, Kramer JM.
Farhan SMK, et al.
Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316.
Hum Mol Genet. 2017.
PMID: 28973161
Free PMC article.
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