Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K33E
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SBDS

NM_016038.4:p.K33E

Associated Papers

Integrated proteogenomic analysis for inherited bone marrow failure syndrome.

Wakamatsu M et al.

Leukemia, 2024

Shwachman-diamond syndrome: A case report.

Tan H et al.

Medicine, 2021

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_S3

Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.

Hamabata T et al.

Scientific Reports, 2020

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Muramatsu H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

Carvalho CM et al.

Bmc Medical Genetics, 2014

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Burwick N et al.

Blood, 2012

Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.

Yamaguchi M et al.

International Journal of Hematology, 2011

Structure, dynamics, and RNA interaction analysis of the human SBDS protein.

de Oliveira JF et al.

Journal of Molecular Biology, 2010

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Ball HL et al.

Human Molecular Genetics, 2009

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Shammas C et al.

The Journal of Biological Chemistry, 2005

[An unusual case of Shwachman-Diamond syndrome].

Azizi E et al.

Harefuah, 1981

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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."