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Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27521
Abstract: previously reported benign variants (Supplementary Table 4), suggesting that the identified VPS13C deletion might contribute to the CMT phenotype seen in our patient, which might help with the diagnosis of prospective VPS13C patients. In summary,…
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Keywords:
deletion;
serum triglyceride;
triglyceride levels;
vps13c deletion ... See more keywords