Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
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Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome SequencingRare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxiasExpanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.HECT-type E3 ubiquitin ligases in nerve cell development and synapse physiology.UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.Perturbed proteostasis in autism spectrum disorders.Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 May 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
@en
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
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type
label
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
@en
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
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prefLabel
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
@en
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
@nl
P2093
P2860
P50
P1476
Loss of function of the E3 ubi ...... n oculocerebrofacial syndrome.
@en
P2093
Chiara Leoni
Daniela Melis
Elisabetta Flex
Giuseppe Zampino
Maria Francesca Bedeschi
Valentina Fodale
Viviana Caputo
P2860
P304
P356
10.1136/JMEDGENET-2012-101405
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P577
2013-05-17T00:00:00Z