Varaico: Literature-Extracted Genetic Variants

Gene:FAM20B
Variant:p.N347fs
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FAM20B

NM_014864.4:p.N347fs

Associated Papers

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.

Arduç A et al.

Clinical Genetics, 2025

Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate.

Chen X et al.

International Journal of Molecular Sciences, 2023

Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.

Mizumoto S et al.

Frontiers in Genetics, 2021

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Kuroda Y et al.

Clinical Genetics, 2019

The ABCs of the atypical Fam20 secretory pathway kinases.

Worby CA et al.

The Journal of Biological Chemistry, 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."