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Journal Articles

A deleterious variant of INTS1 leads to disrupted sleep–wake cycles

In collection:
Neurodegenerative Disorders , Zebrafish as a Disease Model
Shir Confino, Yair Wexler, Adar Medvetzky, Yotam Elazary, Zohar Ben-Moshe, Joel Reiter, Talya Dor, Simon Edvardson, Gali Prag, Tamar Harel, Yoav Gothilf
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (8): dmm050746.
https://doi.org/10.1242/dmm.050746
Published: 27 August 2024
... microcephaly, intellectual disability and severe disruption of sleep–wake cycles in a consanguineous family. Exome sequencing revealed homozygous variants (c.5224G>A and c.6506G>T) leading to the missense mutations E1742K and G2169V in integrator complex subunit 1 ( INTS1 ), the core subunit...
View article titled, A deleterious variant of <span class="search-highlight">INTS1</span> leads to disrupted sleep–wake cycles
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Includes: Supplementary data