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: L50H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Genes

Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M

Publication Date: 2019-10-29

Variant appearance in text: DMD: 149T>A; Leu50His

PubMed Link: 31671740

Variant Present in the following documents:

• Main text
• genes-10-00856.pdf

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