Exome capture sequencing identifies a novel mutation in BBS4

Exome capture sequencing identifies a novel mutation in BBS4

Item
http://www.wikidata.org/entity/Q35648444
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementReview and update on the molecular basis of Leber congenital amaurosisComprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.The ciliopathies: a transitional model into systems biology of human genetic disease.Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish.Exome Sequencing: Current and Future Perspectives.Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
P2860

Exome capture sequencing identifies a novel mutation in BBS4

Item
http://www.wikidata.org/entity/Q35648444
description
2011 nî lūn-bûn
@nan
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Exome capture sequencing identifies a novel mutation in BBS4
@ast
Exome capture sequencing identifies a novel mutation in BBS4
@en
type
label
Exome capture sequencing identifies a novel mutation in BBS4
@ast
Exome capture sequencing identifies a novel mutation in BBS4
@en
prefLabel
Exome capture sequencing identifies a novel mutation in BBS4
@ast
Exome capture sequencing identifies a novel mutation in BBS4
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P50
P577
P698
P932
P1433
P1476
Exome capture sequencing identifies a novel mutation in BBS4
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P932