Varaico: Literature-Extracted Genetic Variants

Gene:MORC2
Variant:p.T25I
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MORC2

NM_001303256.3:p.T25I

Associated Papers

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Lee AJ et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

Sancho P et al.

Human Molecular Genetics, 2019

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.

Hyun YS et al.

Brain : a Journal of Neurology, 2016

Identification of 33 candidate oncogenes by screening for base-specific mutations.

Tuupanen S et al.

British Journal of Cancer, 2014

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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."