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In silico prediction of structural and functional effects of the E71G mutation on GARS and its role in CMT2D and HMN5A pathogenesis

2019-08-30

Abstract excerpt

<title>Abstract</title> <p>Background The E71G mutation in GARS results in Charcot-Marie-Tooth disease type 2D (CMT2D) with overlapping distal hereditary motor neuropathy type 5A (HMN5A) phenotype, but the pathogenesis is unclear. This study aimed to predict the structural and functional effects of this mutation on GARS’ interaction with some of its putative or actual ligands in relation to CMT2D and HMN5A manife...

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Literature Corpus work
5ef60a42-4b3b-5bac-8bbe-be25cf1b0181
DOI
10.21203/rs.2.13688/v1
Open publication

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In silico prediction of structural and functional effects of the E71G mutation on GARS and its role in CMT2D and HMN5A pathogenesisDOI 10.21203/rs.2.13688/v1
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