Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?

D. Ying,Nwm Shek,Wy Chu,Ks Yeung,Kc Leung,Mhy Tang,Sya Kan,Yk Chan,Bhy Chung

Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?

2014

D. Ying
Nwm Shek
Wy Chu
Ks Yeung
Kc Leung
Mhy Tang
Sya Kan
Yk Chan
Bhy Chung

pp. 1685-1740 of this journal issue entitled: 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

Keywords:

Missense mutation
Genetics
Exome sequencing
Early lethality
Morphogenesis
Hypoplasia
Biology
Bioinformatics

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