Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P798L
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CASR

NM_000388.4:p.P798L

Associated Papers

48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.

Chen Y et al.

Journal of Endocrinological Investigation, 2025

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Mazarico-Altisent I et al.

Frontiers in Endocrinology, 2023

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

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM et al.

Human Molecular Genetics, 2012

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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."