Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.E99fs
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SBDS

NM_016038.4:p.E99fs

Associated Papers

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1

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

Newman AR et al.

Journal of Pediatric Hematology/oncology, 2009

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.

Kuijpers TW et al.

Blood, 2005

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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."