Published April 7, 2021
| Version v1
Dataset
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Dataset related to article "Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation"
Authors/Creators
- 1. Fondazione IRCCS - Istituto Neurologico Carlo Besta di Milano
- 2. Univesità del Salento
Description
The dataset contains Raw data on Biological characterization of a novel RAB7A mutation (p.K126R) in a family with a predominantly motor presentation of CMT2B
Notes
Study supported by Telethon Italy (Grant GGP16037 to Cecilia Bucci and GUP13006 to Davide Pareyson) and Associazione Italiana per la Ricerca sul Cancro (AIRC Investigator Grant 2016 N.19068 to Cecilia Bucci)
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Additional details
Related works
- Is supplement to
- Journal article: 10.3390/cells9041028 (DOI)