Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.I139T
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CASR

NM_000388.4:p.I139T

Associated Papers

Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.

Bircan A et al.

Plos Computational Biology, 2024

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review.

Guo S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.

Zung A et al.

Hormone Research in Paediatrics, 2023

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

Wu Y et al.

The Journal of International Medical Research, 2022

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."