A specific mutation in TBL1XR1 causes Pierpont syndrome.

A specific mutation in TBL1XR1 causes Pierpont syndrome.

Item
http://www.wikidata.org/entity/Q40890910
Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative frameworkMutations in TBL1X Are Associated With Central Hypothyroidism.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Rett syndrome: a neurological disorder with metabolic components.A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.Histone deacetylase (HDAC) 1 and 2 complexes regulate both histone acetylation and crotonylation in vivoDiagnostic value of partial exome sequencing in developmental disorders
P2860

A specific mutation in TBL1XR1 causes Pierpont syndrome.

Item
http://www.wikidata.org/entity/Q40890910
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
A specific mutation in TBL1XR1 causes Pierpont syndrome.
@en
type
label
A specific mutation in TBL1XR1 causes Pierpont syndrome.
@en
prefLabel
A specific mutation in TBL1XR1 causes Pierpont syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A specific mutation in TBL1XR1 causes Pierpont syndrome
@en
P2093
P2860
P304
P31
P356
10.1136/JMEDGENET-2015-103233
P407
P433
P478
P50
P577
P5875
P698
P932