Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.R546W
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SEC23B

NM_006363.6:p.R546W

Associated Papers

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.

Musri MM et al.

International Journal of Molecular Sciences, 2023

37373084 (PubMed )
Supplement: ijms-24-09935-s001.zip › ijms-2384944-supplementary.pdf

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.

Díaz-Gay M et al.

Cancers, 2019

30871259 (PubMed )
Supplement: cancers-11-00362-s001.pdf

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI et al.

European Journal of Haematology, 2018

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

Yehia L et al.

American Journal of Human Genetics, 2015

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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."