Associated Papers
TMCO1 as an Endoplasmic Reticulum Calcium Load-Activated Channel: Mechanisms and Disease Implications.
Wang J et al.
Biomolecules, 2025
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Sharkia R et al.
American Journal of Medical Genetics. Part A, 2019
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.
Michael Yates T et al.
American Journal of Medical Genetics. Part A, 2019
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