A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.
about
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Rab23's genetic structure, function and related diseases: a review.Rab GTPases in cilium formation and function.Large-scale computational drug repositioning to find treatments for rare diseases.
P2860
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@ast
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@en
type
label
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@ast
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@en
prefLabel
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@ast
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@en
P2093
P2860
P356
P1476
A Novel Aberrant Splice Site M ...... Consanguineous Emirati Family.
@en
P2093
P2860
P304
P356
10.1159/000345653
P577
2012-12-01T00:00:00Z