Identification of a novel MKS locus defined by TMEM107 mutation.

Identification of a novel MKS locus defined by TMEM107 mutation.

Item
http://www.wikidata.org/entity/Q46434440
Update on oral-facial-digital syndromes (OFDS)KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeTMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeThe Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Ciliopathies.TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Clinical utility gene card for: Meckel syndrome - update 2016.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Genetic contribution of retinoid-related genes to neural tube defects.
P2860

Identification of a novel MKS locus defined by TMEM107 mutation.

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http://www.wikidata.org/entity/Q46434440
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Identification of a novel MKS locus defined by TMEM107 mutation.
@en
Identification of a novel MKS locus defined by TMEM107 mutation.
@nl
type
label
Identification of a novel MKS locus defined by TMEM107 mutation.
@en
Identification of a novel MKS locus defined by TMEM107 mutation.
@nl
prefLabel
Identification of a novel MKS locus defined by TMEM107 mutation.
@en
Identification of a novel MKS locus defined by TMEM107 mutation.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Identification of a novel MKS locus defined by TMEM107 mutation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698