Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts - Concepedia

Concepedia

Publication | Closed Access

Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

49

Citations

47

References

2018

Year

Miroslav P. Milev, Claudio Graziano, Daniela Karall, Willemijn F. E. Kuper, Noraldin Al-Deri, Duccio Maria Cordelli, Tobias B. Haack, Katharina Danhauser, Arcangela Iuso, Flavia Palombo,

Journal of Medical Genetics

Abstract

Our study implicates a RAB11 pathway in the aetiology of the TRAPPC2L disorder and has implications for other TRAPP-related disorders with similar phenotypes.

References

	Year	Citations

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