Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.R233H
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PTH1R

NM_000316.3:p.R233H

Associated Papers

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

Portales-Castillo I et al.

Jbmr Plus, 2022

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."