Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.N64D
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CASR

NM_000388.4:p.N64D

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

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Tudini E et al.

American Journal of Human Genetics, 2022

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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."