Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.F27L
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SBDS

NM_016038.4:p.F27L

Associated Papers

Shwachman-diamond syndrome: A case report.

Tan H et al.

Medicine, 2021

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.

Warren AJ

Advances in Biological Regulation, 2018

Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.

Ong SY et al.

Leukemia Research Reports, 2018

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa A et al.

American Journal of Medical Genetics. Part A, 2016

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Nishimura G et al.

Journal of Medical Genetics, 2007

[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."