Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.R25C
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PTRH1

NM_001002913.3:p.R25C

Associated Papers

Insights into G-protein coupling preference from cryo-EM structures of Gq-bound PTH1R.

Sano FK et al.

Nature Chemical Biology, 2025

Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays.

Höppner J et al.

Current Opinion in Nephrology and Hypertension, 2024

Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.

Hanna P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.

Hawkes CP et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.

Lee JH et al.

Vitamins and Hormones, 2022

Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.

Lee JH et al.

Endocrinology and Metabolism (seoul, Korea), 2020

Search for Novel Mutational Targets in Human Endocrine Diseases.

Park SY et al.

Endocrinology and Metabolism (seoul, Korea), 2019

A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.

Lee S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015

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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."