A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
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A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
description
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A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.
@en
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1
@nl
type
label
A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.
@en
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1
@nl
prefLabel
A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.
@en
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1
@nl
P2093
P2860
P356
P1476
A novel inverted 17p13.3 micro ...... with syndromic lissencephaly.
@en
P2093
Beate Betz
Brigitte Royer-Pokora
Jörg Schaper
Manfred Beier
Matthias Drechsler
Michael Karenfort
Natalie Nickel
Sabrina Classen
Timm Goecke
P2860
P304
P356
10.1002/AJMG.A.35904
P407
P577
2013-04-30T00:00:00Z