A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

BACKGROUND: Next generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during membra...

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Vydáno v:J Med Genet
Hlavní autoři: Al-Deri, Noraldin, Okur, Volkan, Ahimaz, Priyanka, Milev, Miroslav, Valivullah, Zaheer M., Hagen, Jacob, Shen, Yufeng, Chung, Wendy K., Sacher, Michael, Ganapathi, Mythily
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7904957/
https://ncbi.nlm.nih.gov/pubmed/32843486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107016
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