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Characterization of Genotype–Phenotype Correlation With MORC2 Mutated Axonal Charcot–Marie–Tooth Disease in a Cohort of Chinese Patients

2021-02-08

Abstract excerpt

<title>Abstract</title> <p><bold>Objective </bold>Charcot –Marie–Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe the phenotypic-genetic spectrum of MORC2-related diseases in the Chinese population....

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Literature Corpus work
bc4108da-9bd1-5830-87b0-a587c7379db7
DOI
10.21203/rs.3.rs-162301/v1
Open publication

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Characterization of Genotype–Phenotype Correlation With MORC2 Mutated Axonal Charcot–Marie–Tooth Disease in a Cohort of Chinese PatientsDOI 10.21203/rs.3.rs-162301/v1
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