Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

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Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.DNA replication timing alterations identify common markers between distinct progeroid diseases.

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P2860

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

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http://www.wikidata.org/entity/Q39177049

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

@zh-cn

name

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@en

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@nl

type

Item

label

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@en

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@nl

prefLabel

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@en

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@nl

P1476

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

@en

P2093

Alessio Ligabue

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Joshua M Akey

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

Kai J Rogers

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

Raymond J Monnat

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

Wenqing Fu

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

P2860

Spectrum and risk of neoplasia in Werner syndrome: a systematic review

Rothmund-Thomson syndrome

Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes

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

An integrated encyclopedia of DNA elements in the human genome

Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12

The Bloom's syndrome gene product is homologous to RecQ helicases

The spectrum of WRN mutations in Werner syndrome patients

Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ

Human RECQ5beta, a protein with DNA helicase and strand-annealing activities in a single polypeptide

P304

193-203

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scholarly article

P356

10.1002/HUMU.23148

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P478

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2016-11-17T00:00:00Z

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27859906

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Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

about

P2860

P2860

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

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type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932