Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

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Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

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2017 nî lūn-bûn

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2017年の論文

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Interpreting the clinical sign ...... tle support for oligogenicity.

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Interpreting the clinical sign ...... tle support for oligogenicity.

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Interpreting the clinical sign ...... tle support for oligogenicity.

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P1476

Interpreting the clinical sign ...... tle support for oligogenicity.

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P2093

Dan Doherty

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Hannah M Tully

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Ian G Phelps

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Jennifer C Dempsey

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P2860

The Ciliopathies: An Emerging Class of Human Genetic Disorders

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Analysis of protein-coding genetic variation in 60,706 humans

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

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gim.2017.94

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223-233

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scholarly article

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10.1038/GIM.2017.94

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English

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P478

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Ruxandra Bachmann-Gagescu

Christine R Isabella

Megan E Grout

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2017-08-03T00:00:00Z

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1090955209

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

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P2860

P2860

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

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