Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT1
Variant:p.R21W
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B4GALT1

NM_001497.4:p.R21W

Associated Papers

Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.

Marín-Quílez A et al.

International Journal of Molecular Sciences, 2023

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham O et al.

Clinical Genetics, 2020

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
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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."