Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

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Genetics of autosomal recessive intellectual disability

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Q59137493-2AD5B376-555B-4933-861D-986E6F1F147B

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

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P1476

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

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Andrew R Webster

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Ellen A Blokland

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Erik de Vrieze

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Erwin van Wijk

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Frans P M Cremers

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Gavin Arno

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Helger G Yntema

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L Ingeborgh van den Born

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Lisette Hetterschijt

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Lonneke Haer-Wigman

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P2860

Joubert Syndrome and related disorders

Retinitis pigmentosa

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

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624-632

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scholarly article

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10.1136/JMEDGENET-2016-104200

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English

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Lisette Hetterschijt

Lonneke Haer-Wigman

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2017-04-25T00:00:00Z

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28442542

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5574394

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

about

P2860

P2860

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932