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pro vyhledávání: '"Laura Rasmuseen-Torvik"'
Autor:
Laura Rasmuseen-Torvik, Lifang Hou, Donald M. Lloyd-Jones, Yinan Zheng, Yishu Qu, Sadiya S. Khan, Clyde W. Yancy, Sanjiv J. Shah, Drew Nannini, Arjun Sinha
Publikováno v:
Circulation. 141
Introduction: Direct-to-consumer testing (e.g. 23andme) reports now include common pathogenic variants in the transthyretin (TTR) gene, such as V122I. TTR cardiac amyloidosis due to V122I is an autosomal dominant disease known to be of variable penet