A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.
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The roles of RNA processing in translating genotype to phenotypeSyntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
P2860
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@en
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@nl
type
label
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@en
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@nl
prefLabel
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@en
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@nl
P2093
P50
P1476
A novel synonymous mutation in ...... t-Marie-Tooth disease type 1b.
@en
P2093
A Bagarotti
D Pareyson
R Cantello
S D'Alfonso
P304
P356
10.1016/J.NMD.2016.05.011
P577
2016-05-24T00:00:00Z