Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 04 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
@en
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
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type
label
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
@en
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
@nl
prefLabel
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
@en
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
@nl
P2093
P2860
P356
P1476
Occipital horn syndrome and cl ...... tivation of ATP7A pseudo-exon.
@en
P2093
João Silva
Katrine Lund
Lisbeth B Møller
Márcia Martins
Saiqa Yasmeen
Sylvia De Bie
Tina Skjørringe
P2860
P2888
P304
P356
10.1038/EJHG.2013.191
P577
2013-09-04T00:00:00Z