Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

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Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

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name

Myophosphorylase (PYGM) mutati ...... m Turkey with McArdle disease.

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Myophosphorylase

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type

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label

Myophosphorylase (PYGM) mutati ...... m Turkey with McArdle disease.

@en

Myophosphorylase

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prefLabel

Myophosphorylase (PYGM) mutati ...... m Turkey with McArdle disease.

@en

Myophosphorylase

@nl

P1476

Myophosphorylase (PYGM) mutati ...... om Turkey with McArdle disease

@en

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Bahar Toptaş-Hekimoğlu

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Bekir Ergüner

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Can Ebru Bekircan-Kurt

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Duran Üstek

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Ersin Tan

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Feza Deymeer

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Güldal Inal-Gültekin

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Hacer Durmuş

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Hülya Yılmaz-Aydoğan

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Mahmut Ş Sağıroğlu

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P2860

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

A framework for variation discovery and genotyping using next-generation DNA sequencing data

BEDTools: a flexible suite of utilities for comparing genomic features.

Integrative genomics viewer

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.

HomSI: a homozygous stretch identifier from next-generation sequencing data.

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997-1008

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scholarly article

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10.1016/J.NMD.2017.06.004

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P478

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Hüseyin Demirci

Sevim Erdem Özdamar

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2017-06-16T00:00:00Z

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28967462

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5698850

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