Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

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http://www.wikidata.org/entity/Q34619528
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Mouse models of ciliopathies: the state of the art.A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signalingMultilayer control of the EMT master regulators.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Genetic modifiers and oligogenic inheritance.Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.Clinical utility gene card for: Meckel syndrome - update 2016.Clinical utility gene card for: Meckel syndrome.Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
P2860

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Item
http://www.wikidata.org/entity/Q34619528
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2007 nî lūn-bûn
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2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2007 թվականի հունիսին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年论文
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Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@ast
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@en
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@nl
type
label
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@ast
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@en
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@nl
prefLabel
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@ast
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@en
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@nl
P1433
P1476
P2093
P304
P31
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P478
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P5875
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P1433
P1476
Aberrant splicing is a common ...... yer in Meckel-Gruber syndrome.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698