Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship - Wikidata - awgldk - TriplyDB

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

http://www.wikidata.org/entity/Q35150496

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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation.Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Overcoming stalled translation in human mitochondria.Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

http://www.wikidata.org/entity/Q35150496

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2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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European Journal of Human Genetics

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Alex Lossos

http://www.w3.org/2001/XMLSchema#string

Ann Saada

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Avraham Shaag

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Ayala Burger

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Dorit Goldsher

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Haneen Jabaly-Habib

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Hanna Mandel

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Issy Lerer

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John M Gomori

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Orly Elpeleg

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P2860

Structural Basis for the Rescue of Stalled Ribosomes: Structure of YaeJ Bound to the Ribosome

Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Evolution and diversification of the organellar release factor family.

Terminating human mitochondrial protein synthesis: a shift in our thinking.

Class-1 translation termination factors: invariant GGQ minidomain is essential for release activity and ribosome binding but not for stop codon recognition

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency.

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

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1019-1025

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10.1038/EJHG.2013.284

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8

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22

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