Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyModel Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.TBCK-related intellectual disability syndrome: Case study of two patients.Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
P2860
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
description
2016 nî lūn-bûn
@nan
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
2016年论文
@zh
2016年论文
@zh-cn
name
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@ast
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@en
type
label
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@ast
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@en
prefLabel
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@ast
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@en
P2093
P2860
P50
P1476
Recessive Inactivating Mutatio ...... tile Syndromic Encephalopathy.
@en
P2093
Alina Nguyen
Colby T Marvin
Dan Doherty
Gisele E Ishak
Ian G Phelps
Jennifer C Dempsey
Lisa Worgan
Lorenzo Stella
Michael J Bamshad
Richard Webster
P2860
P304
P356
10.1016/J.AJHG.2016.01.016
P407
P577
2016-03-29T00:00:00Z