Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Wikidata - wikimedia - TriplyDB

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

http://www.wikidata.org/entity/Q34524462

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2009 nî lūn-bûn

@nan

2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@ast

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@en

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@nl

type

label

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@ast

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@en

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@nl

prefLabel

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@ast

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@en

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@nl

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BCR.08.2008.0719

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BMJ case reports

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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

@en

P2093

A Cano

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

B Chabrol

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G Matthijs

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J Jaeken

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J W M Creemers

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K Martens

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S Meulemans

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P2860

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Spb1p is a yeast nucleolar protein associated with Nop1p and Nop58p that is able to bind S-adenosyl-L-methionine in vitro

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

PREPL: a putative novel oligopeptidase propelled into the limelight.

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

P31

scholarly article

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10.1136/BCR.08.2008.0719

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2009

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2009-02-02T00:00:00Z

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21686663

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3027732

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