Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservationFirst Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
P2860
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
description
2017 nî lūn-bûn
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2017年の論文
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2017年論文
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name
Biallelic Variants in OTUD6B C ...... zures and Dysmorphic Features.
@en
type
label
Biallelic Variants in OTUD6B C ...... zures and Dysmorphic Features.
@en
prefLabel
Biallelic Variants in OTUD6B C ...... zures and Dysmorphic Features.
@en
P2093
P2860
P50
P921
P1476
Biallelic Variants in OTUD6B C ...... zures and Dysmorphic Features.
@en
P2093
Alicia A Braxton
Andrea Lehmann
Bassam Abu-Libdeh
Benjamin Cogné
Bertrand Isidor
Bulent Kara
Christine M Eng
Elizabeth Roeder
EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan
Frédéric Ebstein
P2860
P304
P356
10.1016/J.AJHG.2017.03.001
P407
P50
P577
2017-03-21T00:00:00Z