Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

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http://www.wikidata.org/entity/Q36891139
NovelGNB1missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilityDe novo mutational profile in RB1 clarified using a mutation rate modeling algorithmGNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Update on the Genetics of Dystonia.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Quantitative Multiple-Reaction Monitoring Proteomic Analysis of Gβ and Gγ Subunits in C57Bl6/J Brain Synaptosomes.Mechanisms of Mendelian dominance.Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.
P2860

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

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http://www.wikidata.org/entity/Q36891139
description
2016 nî lūn-bûn
@nan
2016年の論文
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2016年論文
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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
2016年论文
@zh
2016年论文
@zh-cn
name
Germline De Novo Mutations in ...... lity, Hypotonia, and Seizures.
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type
label
Germline De Novo Mutations in ...... lity, Hypotonia, and Seizures.
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Germline De Novo Mutations in ...... lity, Hypotonia, and Seizures.
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Germline De Novo Mutations in ...... lity, Hypotonia, and Seizures.
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P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2016.03.011
P407
P433
P478
P50
P577
P698
P921
P932