Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.S795*
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CNNM2

NM_017649.5:p.S795*

Associated Papers

Novel CNNM2 variant causing hypomagnesemia and early-onset calcium pyrophosphate deposition disease: A case report.

Robert C et al.

Joint Bone Spine, 2026

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

Bosman W et al.

Scientific Reports, 2024

Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.

Xu X et al.

Molecular Genetics & Genomic Medicine, 2022

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure.

Tseng MH et al.

Frontiers in Genetics, 2022

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.

Zhang H et al.

Frontiers in Pediatrics, 2021

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

García-Castaño A et al.

Plos One, 2020

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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."