Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.R764Q
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CNNM2

NM_017649.5:p.R764Q

Associated Papers

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Ma J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

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

Li X et al.

Frontiers in Genetics, 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."