Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.R147C
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PTH1R

NM_000316.3:p.R147C

Associated Papers

Etiological Mechanisms and Genetic/Biological Modulation Related to PTH1R in Primary Failure of Tooth Eruption.

Li XX et al.

Calcified Tissue International, 2024

Primary failure of tooth eruption: Etiology and management.

Yamaguchi T et al.

The Japanese Dental Science Review, 2022

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.

Portales-Castillo I et al.

Jbmr Plus, 2022

Functional Analysis of PTH1R Variants Found in Primary Failure of Eruption.

Izumida E et al.

Journal of Dental Research, 2020

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A et al.

Clinical Genetics, 2018

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

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

Roth H et al.

Clinical Oral Investigations, 2014

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Risom L et al.

Plos One, 2013

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.

Yamaguchi T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

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."