Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.E248K
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SEC23B

NM_006363.6:p.E248K

Associated Papers

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

A novel variant mutation for congenital dyserythropoietic anemia, type II.

Song JY et al.

Blood Cells, Molecules & Diseases, 2014

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA et al.

Molecular Genetics and Metabolism, 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."