Defective STRA6 does not transport atROL - Wikidata - wikimedia - TriplyDB

Defective STRA6 does not transport atROL

Defective STRA6 does not transport atROL

http://www.wikidata.org/entity/Q50288886

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Retinoid cycle disease events

P527

Q45314437-B02BADFF-28C5-47FB-82CB-7E294D63EBD1

P527

Defective STRA6 does not transport atROL

http://www.wikidata.org/entity/Q50288886

description

An instance of the biological ...... ransport atROL in Homo sapiens

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biologisch proces

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name

Defective STRA6 does not transport atROL

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type

label

Defective STRA6 does not transport atROL

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prefLabel

Defective STRA6 does not transport atROL

@en

P2860

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Q50288886-9E54DE6A-E13B-4437-ABC0-2C61D90D2AA9

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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

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reactome:R-HSA-2453818

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biological process

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Retinoid cycle disease events

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R-HSA-2453818

http://www.w3.org/2001/XMLSchema#string

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TTR:RBP4:atROL:STRA6

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