Publications:

Metabolic Alterations in Inherited Cardiomyopathies.

Journal Of Clinical Medicine

Sacchetto, Claudia C; Sequeira, Vasco V; Bertero, Edoardo E; Dudek, Jan J; Maack, Christoph C; Calore, Martina M

Publication Date: 2019-12-12

Variant appearance in text: GLA: Asp92Gly

PubMed Link: 31842377

Variant Present in the following documents:

• jcm-08-02195.pdf

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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: GLA: D92G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

Bmc Medical Genetics

Bouhouche, Ahmed A; Benomar, Ali A; Errguig, Leila L; Lachhab, Lamiae L; Bouslam, Naima N; Aasfara, Jehanne J; Sefiani, Sanaa S; Chabraoui, Layachi L; El Fahime, Elmostafa E; El Quessar, Abdeljalil A; Jiddane, Mohamed M; Yahyaoui, Mohamed M

Publication Date: 2012-03-21

Variant appearance in text: GLA: 275A>G; Asp92Gly

PubMed Link: 22436252

Variant Present in the following documents:

• Main text
• 1471-2350-13-18.pdf

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