Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K151N
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SBDS

NM_016038.4:p.K151N

Associated Papers

Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.

Mattiotti G et al.

Acs Omega, 2025

Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.

Gijsbers A et al.

International Journal of Molecular Sciences, 2018

Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

Weis F et al.

Nature Structural & Molecular Biology, 2015

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

Johnson AW et al.

Genes & Development, 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."