Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.F217F
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SBDS

NM_016038.4:p.F217F

Associated Papers

Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum.

Wu D et al.

Plos One, 2022

36512530 (PubMed )
Supplement: pone.0269029.s001.xlsx › Supplement_Table_1

Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?

Karow A et al.

Haematologica, 2010

A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.

Newman AR et al.

Journal of Pediatric Hematology/oncology, 2009

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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."