Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.L34P
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CASR

NM_000388.4:p.L34P

Associated Papers

Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.

Karakaş H et al.

Molecular Syndromology, 2025

Neonatal Severe Hyperparathyroidism Causing Life-Threatening Hypercalcemia Treated With Medical and Surgical Management.

Rosettenstein K et al.

Jcem Case Reports, 2024

Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism.

Ward BK et al.

Case Reports in Endocrinology, 2024

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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."