Associated Papers
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
Liu G et al.
Experimental and Therapeutic Medicine, 2020
Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation.
Graham JB et al.
Molecular Biology of the Cell, 2020
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Jerber J et al.
American Journal of Human Genetics, 2016
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