Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A13
Variant:p.G74D
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SLC39A13

NM_001128225.3:p.G74D

Associated Papers

Possible involvement of zinc transporter ZIP13 in myogenic differentiation.

Shoji M et al.

Scientific Reports, 2024

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.

Kumps C et al.

Genes, 2020

Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.

Cortini F et al.

Archives of Dermatological Research, 2019

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Dusanic M et al.

Molecular Syndromology, 2018

The Ehlers-Danlos syndromes, rare types.

Brady AF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

Current understanding of ZIP and ZnT zinc transporters in human health and diseases.

Kambe T et al.

Cellular and Molecular Life Sciences : Cmls, 2014

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.

Bin BH et al.

Embo Molecular Medicine, 2014

Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.

Walker LC et al.

American Journal of Medical Genetics. Part A, 2011

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.

Fukada T et al.

Plos One, 2008

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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."