Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.R190*
Back to variants list

SEC23A

NM_006364.4:p.R190*

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

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.

Satchwell TJ et al.

Haematologica, 2013

Congenital dyserythropoietic anemias.

Iolascon A et al.

Current Opinion in Hematology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."