| 1 | CMT2Y, VCP
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| Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
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| Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A.
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| Case Rep Genet 2015:239167. doi: 10.1155/2015/239167. Epub 2015 Mar 23.
2015
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| 2 | CMT2Y, VCP
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| A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
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| Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME.
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| Brain 137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14.
2014
|