Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Published 2015 View Full Article

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Title
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
Authors
Keywords
Vocal Cord Paralysis, Motor Nerve Conduction Velocity, Distal Symmetric Polyneuropathies, Tooth Disease, Limb Girdle Muscular Dystrophy
Journal
HUMAN GENETICS
Volume 134, Issue 6, Pages 671-673
Publisher
Springer Nature
Online
2015-04-16
DOI
10.1007/s00439-015-1548-3
References
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