Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.M14K
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PTH

NM_000315.4:p.M14K

Associated Papers

Two novel rare variants in the PTH gene found in patients with hypoparathyroidism.

Jiang Y et al.

Osteoporosis and Sarcopenia, 2025

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.

Mukhtar N et al.

Frontiers in Endocrinology, 2024

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

Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.

Gild ML et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.

Lee JH et al.

Endocrinology and Metabolism (seoul, Korea), 2020

Genetic Disorders of Parathyroid Development and Function.

Gordon RJ et al.

Endocrinology and Metabolism Clinics of North America, 2018

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Cinque L et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."