Varaico: Literature-Extracted Genetic Variants

Gene:EFL1
Variant:p.T33A
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EFL1

NM_024580.6:p.T33A

Associated Papers

Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.

Pérez-Juárez J et al.

Biomolecules, 2022

Defective ribosome assembly in Shwachman-Diamond syndrome.

Wong CC et al.

Blood, 2011

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

Finch AJ et al.

Genes & Development, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."