THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder - Concepedia

Concepedia

Publication | Open Access

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

DOI Full Paper Access

43

Citations

42

References

2022

Year

Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard,

The American Journal of Human Genetics

Trna AcetylationDevelopmental BiologySyndromic Neurodevelopmental DisorderThumpd1 Bi-allelic VariantsGenetic DisorderGeneticsNeuroscienceMolecular NeurobiologyDisease Gene IdentificationMedicineEpigeneticsNeurogenetics

References

	Year	Citations

Page 1

Page 1