MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
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Lessons learned from additional research analyses of unsolved clinical exome cases.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Erratum to: Illuminating uveitis: metagenomic deep sequencing identifies common and rare pathogens.Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.Assessment of fenofibrate-methylation interactions on triglycerides using longitudinal family data
P2860
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
description
2016 nî lūn-bûn
@nan
2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@ast
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@en
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@nl
type
label
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@ast
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@en
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@nl
prefLabel
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@ast
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@en
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@nl
P2093
P2860
P50
P1433
P1476
MIPEP recessive variants cause ...... ypotonia, and infantile death.
@en
P2093
Aisha Al Shamsi
Christine M Eng
Donna M Muzny
F-Nora Vögtle
Holly H Zimmerman
James R Lupski
Jill A Rosenfeld
Jozef Hertecant
P2860
P2888
P356
10.1186/S13073-016-0360-6
P577
2016-11-01T00:00:00Z
P6179
1025758517