Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.Y191delFs
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PTH1R

NM_000316.3:p.Y191delFs

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 Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.

Inchingolo F et al.

Children (basel, Switzerland), 2023

Primary failure of tooth eruption: Etiology and management.

Yamaguchi T et al.

The Japanese Dental Science Review, 2022

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

Moirangthem A et al.

Clinical Genetics, 2018

Primary failure of eruption (PFE): a systematic review.

Hanisch M et al.

Head & Face Medicine, 2018

In silico and functional evaluation of PTH1R mutations found in patients with primary failure of eruption (PFE).

Hendricks HM et al.

Orthodontics & Craniofacial Research, 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

Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis.

Frazier-Bowers SA et al.

Journal of Dental Research, 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."