Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
description
article
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2018
@uk
name
Novel mutations in the ciliopa ...... I rather than Joubert syndrome
@en
Novel mutations in the ciliopathy-associated gene CPLANE1
@nl
type
label
Novel mutations in the ciliopa ...... I rather than Joubert syndrome
@en
Novel mutations in the ciliopathy-associated gene CPLANE1
@nl
prefLabel
Novel mutations in the ciliopa ...... I rather than Joubert syndrome
@en
Novel mutations in the ciliopathy-associated gene CPLANE1
@nl
P2093
P50
P1476
Novel mutations in the ciliopa ...... I rather than Joubert syndrome
@en
P2093
Adila Alkindi
Alvin Yu Jin Ng
Angeline Lai
Bruno Reversade
Carine Bonnard
Ene Choo Tan
Jamal Ghoumid
Jiin Ying Lim
Kakaly Ghosh
Louise Devisme
P304
P356
10.1016/J.EJMG.2018.03.012
P50
P577
2018-03-30T00:00:00Z