Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

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Case reports of two pedigrees ...... ous Thr335Ala variant in DSG2.

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Case reports of two pedigrees ...... ous Thr335Ala variant in DSG2.

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Case reports of two pedigrees ...... ous Thr335Ala variant in DSG2.

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P1476

Case reports of two pedigrees ...... ous Thr335Ala variant in DSG2.

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Eija H Seppälä

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Juha W Koskenvuo

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Juho Viikilä

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Miia Holmström

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Olli Anttonen

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Sami Qadri

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Samuel Myllykangas

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Tero-Pekka Alastalo

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Tiina Heliö

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P2860

Predicting deleterious amino acid substitutions

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

A method and server for predicting damaging missense mutations

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study

Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

P2888

s12881-017-0442-3

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scholarly article

case report

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10.1186/S12881-017-0442-3

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P478

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Sami Qadri

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2017-08-17T00:00:00Z

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28818065

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P921

arrhythmogenic right ventricular cardiomyopathy

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5561604

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