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Details on Person Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia
| Class:Id | LiteratureReference:2453872 |
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| _displayName | Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia |
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| _timestamp | 2012-08-17 13:27:15 |
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| author | [Person:2453888] Chassaing, Nicolas
[Person:2453891] Golzio, Christelle
[Person:2453900] Odent, Sylvie
[Person:2453807] Lequeux, Léopoldine
[Person:2453809] Vigouroux, Adeline
[Person:2453823] Martinovic-Bouriel, Jelena
[Person:2453847] Tiziano, Francesco Danilo
[Person:2453874] Masini, Lucia
[Person:2453865] Piro, Francesca
[Person:2453834] Maragliano, Giovanna
[Person:2038348] Delezoide, AL
[Person:2453883] Attié-Bitach, Tania
[Person:2453840] Manouvrier-Hanu, Sylvie
[Person:2453825] Etchevers, Heather C
[Person:2453820] Calvas, Patrick |
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| created | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
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| journal | Hum. Mutat. |
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| pages | E673-81 |
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| pubMedIdentifier | 19309693 |
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| title | Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia |
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| volume | 30 |
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| year | 2009 |
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| (literatureReference) | [FailedReaction:2453818] Defective STRA6 does not transport atROL [Homo sapiens]
[Reaction:2453863] STRA6 transports atROL from extracellular region to cytosol [Homo sapiens]
[Pathway:9918449] Defective visual phototransduction due to STRA6 loss of function [Homo sapiens] |
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