Varaico: Literature-Extracted Genetic Variants

Gene:MORC2
Variant:p.A406V
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MORC2

NM_001303256.3:p.A406V

Associated Papers

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Mirchi A et al.

Neurogenetics, 2022

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

Jacquier A et al.

Frontiers in Cellular Neuroscience, 2022

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.

Sivera R et al.

European Journal of Neurology, 2021

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Vujovic D et al.

Journal of the Peripheral Nervous System : Jpns, 2021

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

Sancho P et al.

Human Molecular Genetics, 2019

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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."