Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.L48P
Back to variants list

CNNM2

NM_017649.5:p.L48P

Associated Papers

Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.

Li H et al.

Frontiers in Genetics, 2025

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

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

Tseng MH et al.

Frontiers in Genetics, 2022

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Franken GAC et al.

Human Mutation, 2021

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.

Li X et al.

Frontiers in Genetics, 2021

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

Zhang H et al.

Frontiers in Pediatrics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."