Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.Q451_G452Splc
Back to variants list

PTH1R

NM_000316.3:p.Q451_G452Splc

Associated Papers

Identification of a novel PTH1R variant in a family with primary failure of eruption.

Zha Y et al.

Bmc Oral Health, 2023

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

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

Wagner D et al.

Journal of Oral Biology and Craniofacial Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."