Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
about
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.Positive selection rather than relaxation of functional constraint drives the evolution of vision during chicken domestication.The leak channel NALCN controls tonic firing and glycolytic sensitivity of substantia nigra pars reticulata neurons.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.Dopamine negatively modulates the NCA ion channels in C. elegans.The NCA-1 and NCA-2 Ion Channels Function Downstream of Gq and Rho To Regulate Locomotion in Caenorhabditis elegans.Phenotypic evolution of UNC80 loss of function.
P2860
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P2860
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
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2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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name
Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
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Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
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type
label
Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
@ast
Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
@en
prefLabel
Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
@ast
Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
@en
P2093
P2860
P1476
Biallelic Mutations in UNC80 C ...... Severe Intellectual Disability
@en
P2093
Asbjørg Stray-Pedersen
Baylor-Hopkins Center for Mendelian Genomics
Care4Rare Canada Consortium
Chunlei Cang
Clara D M van Karnebeek
Dejian Ren
Donna M Muzny
Grace Yoon
James R Lupski
Jan-Maarten Cobben
P2860
P304
P356
10.1016/J.AJHG.2015.11.004
P407
P577
2015-12-16T00:00:00Z