Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.A2053P
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SPTB

NM_001355436.2:p.A2053P

Associated Papers

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.

Richmond CM et al.

Molecular Syndromology, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

Al-Riyami AZ et al.

American Journal of Hematology, 2017

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Park J et al.

Clinical Genetics, 2016

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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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."