Published in
Cell Press, American Journal of Human Genetics, 4(109), p. 587-600, 2022
DOI: 10.1016/j.ajhg.2022.02.001
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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
Journal article published in 2022 by
Martin Broly,
Bogdan V. Polevoda,
Kamel M. Awayda,
Ning Tong,
Jenna Lentini,
Thomas Besnard,
Wallid Deb,
Declan O’Rourke,
Julia Baptista 
,
Sian Ellard,
Mohammed Almannai,
Mais Hashem,
Ferdous Abdulwahab,
Hanan Shamseldin,
Saeed Al-Tala
and other authors.
,
Sian Ellard,
Mohammed Almannai,
Mais Hashem,
Ferdous Abdulwahab,
Hanan Shamseldin,
Saeed Al-Tala
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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