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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASR

Variant:p.F788delFs

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CASR

NM_000388.4:p.F788delFs

hg38:chr3:122284317 TC>T

Associated Papers

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

Karakaş H et al.

Molecular Syndromology, 2025

41378239 (PubMed )

A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management.

Gupta P et al.

Indian Journal of Pediatrics, 2022

35380381 (PubMed )

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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."