Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.G350Splc
Back to variants list

PTH1R

NM_000316.3:p.G350Splc

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

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

PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling.

Subramanian H et al.

Plos One, 2016

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

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 (PFE). Clinical and molecular genetics analysis].

Stellzig-Eisenhauer A et al.

L' Orthodontie Francaise, 2013

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 (PFE)--clinical and molecular genetics analysis.

Stellzig-Eisenhauer A et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2010

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.

Decker E et al.

American Journal of Human Genetics, 2008

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."