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Updated: May 10, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

遺伝性心筋病症の新たな位置は,染色体7にマップされています

Lei Song1, Steven R DePalma, Maria Kharlap

  • 1Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA, USA.

Circulation
|May 3, 2006
PubMed
まとめ

研究者らは,遺伝性心疾患に関連した,染色体7の新しい遺伝的位置を特定しました. この発見は,心筋縮の遺伝的原因がサルコメアタンパク質を超えて広がり,心臓の改造に関する新しい洞察を提供することを示唆しています.

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