Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome - Wikidata - awgldk - TriplyDB

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Rothmund-Thomson syndrome Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs Origins and functional impact of copy number variation in the human genome Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.The mutation spectrum in RECQL4 diseases.NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders The versatile RECQL4.Detection of clinically relevant exonic copy-number changes by array CGH.Assessing structural variation in a personal genome-towards a human reference diploid genome.Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review.Direct and indirect roles of RECQL4 in modulating base excision repair capacity.Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms.Clinical utility gene card for: Rothmund-Thomson syndrome.Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression.Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.GStream: improving SNP and CNV coverage on genome-wide association studies.

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

http://www.wikidata.org/entity/Q24632624

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2002 nî lūn-bûn

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2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2002 թվականի հուլիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年论文

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name

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

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American Journal of Human Genetics

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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

@en

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Anu Gannavarapu

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

Lisa L Wang

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

Moise L Levy

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

Murali M Chintagumpala

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Sharon E Plon

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Initial sequencing and analysis of the human genome

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence

Human hypertension caused by mutations in WNK kinases

Exon recognition in vertebrate splicing

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Rothmund-Thomson syndrome: review of the world literature.

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.

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165-167

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10.1086/341234

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71

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