Publications:

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation

Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP

Publication Date: 2019-07-16

Variant appearance in text: MYBPC3: Tyr1251*

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-s001.pdf

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A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Bmc Medical Genetics

Teirlinck, Carolien H CH; Senni, Faïza F; Malti, Rajae El RE; Majoor-Krakauer, Danielle D; Fellmann, Florence F; Millat, Gilles G; André-Fouët, Xavier X; Pernot, François F; Stumpf, Michaël M; Boutarin, Jean J; Bouvagnet, Patrice P

Publication Date: 2012-11-10

Variant appearance in text: MYBPC3: Tyr1251X

PubMed Link: 23140321

Variant Present in the following documents:

• Main text
• 1471-2350-13-105.pdf

View BVdb publication page