Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family
about
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentSCF ubiquitin ligase-targeted therapies.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.The role of F-box only protein 31 in cancer.De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
P2860
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P2860
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family
description
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
@ast
im August 2014 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2014/08/01)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/08/01)
@nl
наукова стаття, опублікована в серпні 2014
@uk
مقالة علمية (نشرت في أغسطس 2014)
@ar
name
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@ast
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@en
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@nl
type
label
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@ast
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@en
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@nl
prefLabel
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@ast
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@en
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@nl
P2093
P2860
P1433
P1476
Truncation of the E3 ubiquitin ...... sability in a Pakistani family
@en
P2093
Abdul Shakoor
Anna Mikhailov
Carolina Araujo
Farooq Naeem
Huda Mahmood
John B. Vincent
Kirti Mittal
Kumudesh Sritharan
P2860
P2888
P304
P356
10.1007/S00439-014-1438-0
P577
2014-08-01T00:00:00Z
P5875
P6179
1023792471