Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.Q86_I87Splc
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SBDS

NM_016038.4:p.Q86_I87Splc

Associated Papers

Shwachman-diamond syndrome: A case report.

Tan H et al.

Medicine, 2021

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

Newman AR et al.

Journal of Pediatric Hematology/oncology, 2009

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.

Taneichi H et al.

International Journal of Hematology, 2006

[An unusual case of Shwachman-Diamond syndrome].

Azizi E et al.

Harefuah, 1981

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E et al.

Blood Cells, Molecules & Diseases, 0

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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."