Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.A16delins
Back to variants list

PTH

NM_000315.4:p.A16delins

Associated Papers

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

Jiang Y et al.

Osteoporosis and Sarcopenia, 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

Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.

Hawkes CP et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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."