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Transcriptomics
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Homo sapiens
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biostudies-arrayexpress
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pride
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Affinity purification coupled with mass spectrometry proteomics
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Transcription profiling by array
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Medical Bioanalytics Institute for Ophthalmic Research Eberhard-Karls-University Tuebingen
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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Not available
S-EPMC384990
|
biostudies-literature
Cite
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
Not available
S-EPMC2727928
|
biostudies-literature
Cite
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Not available
S-EPMC6469102
|
biostudies-literature
Cite
Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.
Not available
S-EPMC4515948
|
biostudies-literature
Cite
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
Not available
S-EPMC2648685
|
biostudies-literature
Cite
Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice.
Not available
S-EPMC3891615
|
biostudies-literature
Cite
A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
Not available
S-EPMC4936483
|
biostudies-literature
Cite
Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation.
Not available
S-EPMC6797590
|
biostudies-literature
Cite
The vertebrate primary cilium in development, homeostasis, and disease.
Not available
S-EPMC3016012
|
biostudies-literature
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Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
Not available
S-EPMC3640323
|
biostudies-literature
Cite
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