Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

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WISP3 mutation associated with Pseudorheumatoid Dysplasia.Late diagnosis of a truncating WISP3 mutation results in a severe phenotype of progressive pseudorheumatoid dysplasia.Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3

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P2860

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

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http://www.wikidata.org/entity/Q36996523

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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

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2016年論文

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2016年論文

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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

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Whole Exome Screening Identifi ...... ia in Jammu and Kashmir-India.

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Whole Exome Screening Identifi ...... ia in Jammu and Kashmir-India.

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Whole Exome Screening Identifi ...... ia in Jammu and Kashmir-India.

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P1476

Whole Exome Screening Identifi ...... ia in Jammu and Kashmir-India.

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Ankit Mahajan

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Arshia Angural

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Carol A Wise

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Ekta Rai

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Kamal Kishore Pandita

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Manoj K Dhar

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Parvinder Kumar

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Shiro Ikegawa

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

Sushil Razdan

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P2860

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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

ClinVar: public archive of relationships among sequence variation and human phenotype

Unlocking Mendelian disease using exome sequencing.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

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srep27684

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scholarly article

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10.1038/SREP27684

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English

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Kumarasamy Thangaraj

Swarkar Sharma

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2016-06-13T00:00:00Z

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Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

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P2860

P2860

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

description

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P1433

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P2093

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P2888

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P1476

P2093

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P407

P478

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P932