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: E216K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Molecular Psychiatry

Mercati, O O; Huguet, G G; Danckaert, A A; André-Leroux, G G; Maruani, A A; Bellinzoni, M M; Rolland, T T; Gouder, L L; Mathieu, A A; Buratti, J J; Amsellem, F F; Benabou, M M; Van-Gils, J J; Beggiato, A A; Konyukh, M M; Bourgeois, J-P JP; Gazzellone, M J MJ; Yuen, R K C RK; Walker, S S; Delépine, M M; Boland, A A; Régnault, B B; Francois, M M; Van Den Abbeele, T T; Mosca-Boidron, A L AL; Faivre, L L; Shimoda, Y Y; Watanabe, K K; Bonneau, D D; Rastam, M M; Leboyer, M M; Scherer, S W SW; Gillberg, C C; Delorme, R R; Cloëz-Tayarani, I I; Bourgeron, T T

Publication Date: 2017-04

Variant appearance in text: DMD: E216K

PubMed Link: 27166760

Variant Present in the following documents:

• Main text

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