Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.D335N
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CNNM2

NM_017649.5:p.D335N

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

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

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

35170241 (PubMed )
Supplement: MGG3-10-e1898-s001.xlsx › Sheet1

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

Tseng MH et al.

Frontiers in Genetics, 2022

Crystal structure of an archaeal CorB magnesium transporter.

Chen YS et al.

Nature Communications, 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."