Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
description
article
@en
im August 2018 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2018
@uk
name
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@en
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@nl
type
label
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@en
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@nl
prefLabel
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@en
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@nl
P2093
P2860
P50
P356
P1476
Homozygous mutation in the Neu ...... ypotonia, amimia and areflexia
@en
P2093
Anna Biernacka
Diane L Sherman
Dorota Mikolajkow
Joanna Kosinska
Malgorzata Marciniak
Pawel Krajewski
Peter J Brophy
Piotr Stawinski
Robert Smigiel
Witalij Andrzejewski
P2860
P304
P356
10.1093/HMG/DDY277
P407
P50
P577
2018-11-01T00:00:00Z