Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: A171P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.

Plos One

Toh, Zhi Yon Charles ZY; Thandar Aung-Htut, May M; Pinniger, Gavin G; Adams, Abbie M AM; Krishnaswarmy, Sudarsan S; Wong, Brenda L BL; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2016

Variant appearance in text: DMD: A171P

PubMed Link: 26745801

Variant Present in the following documents:

• Main text
• pone.0145620.pdf

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The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Comprehensive Physiology

Gao, Quan Q QQ; McNally, Elizabeth M EM

Publication Date: 2015-07-01

Variant appearance in text: DMD: A171P

PubMed Link: 26140716

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• Main text

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Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Singh, Surinder M SM; Kongari, Narsimulu N; Cabello-Villegas, Javier J; Mallela, Krishna M G KM

Publication Date: 2010-08-24

Variant appearance in text: DMD: A171P

PubMed Link: 20696926

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• Main text

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