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: H36D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Genes

Barny, Iris I; Perrault, Isabelle I; Michel, Christel C; Goudin, Nicolas N; Defoort-Dhellemmes, Sabine S; Ghazi, Imad I; Kaplan, Josseline J; Rozet, Jean-Michel JM; Gerard, Xavier X

Publication Date: 2019-05-14

Variant appearance in text: DMD: H36D

PubMed Link: 31091803

Variant Present in the following documents:

• Main text
• genes-10-00368.pdf

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