Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.R213Splc
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PTH1R

NM_000316.3:p.R213Splc

Associated Papers

Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption.

Kanno CM et al.

American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics, 2017

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Jelani M et al.

Archives of Oral Biology, 2016

Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene.

Pilz P et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2014

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.

Roth H et al.

Clinical Oral Investigations, 2014

Primary failure of eruption: From molecular diagnosis to therapeutic management.

Wagner D et al.

Journal of Oral Biology and Craniofacial Research, 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."