Varaico: Literature-Extracted Genetic Variants

Gene:CALCR
Variant:p.L447P
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CALCR

NM_001742.4:p.L447P

Associated Papers

Challenges in Gaucher disease: Perspectives from an expert panel.

Grabowski GA et al.

Molecular Genetics and Metabolism, 2025

Ca2+-sensing receptor-TRP channel-mediated Ca2+ signaling: Functional diversity and pharmacological complexity.

Wu KC et al.

European Journal of Pharmacology, 2024

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.

Ali FT et al.

Urolithiasis, 2022

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.

Zimmermann A et al.

Therapeutics and Clinical Risk Management, 2018

Association of calcitonin receptor gene (CALCR) polymorphism with kidney stone disease in the population of West Bengal, India.

Mitra P et al.

Gene, 2017

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Milne RL et al.

Human Molecular Genetics, 2014

AGTR2 gene polymorphism is associated with muscle fibre composition, athletic status and aerobic performance.

Mustafina LJ et al.

Experimental Physiology, 2014

Genetic polymorphisms in calcitonin receptor gene and risk for recurrent kidney calcium stone disease.

Shakhssalim N et al.

Urologia Internationalis, 2014

Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal women.

Tural S et al.

Gene, 2013

In vitro characterization of a human calcitonin receptor gene polymorphism.

Wolfe LA et al.

Mutation Research, 2003

[Genetic risk markers of low bone mineral density in cystic fibrosis children].

Norek A et al.

Medycyna Wieku Rozwojowego, 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."