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Updated: May 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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左心室非緊縮症またはバルト症候群の患者における新規遺伝子変異

F Ichida1, S Tsubata, K R Bowles

  • 1Department of Pediatrics, Toyama Medical and Pharmaceutical University, Toyama, Japan.

Circulation
|March 10, 2001
PubMed
まとめ

G4.5の遺伝子変異は,左心房非収縮症 (LVNC) やバース症候群 (BTHS) などの乳児性心筋病を引き起こす. 新しい遺伝子であるアルファ-ディストロブレビンも,先天性心疾患 (CHD) のLVNC症例で特定されました.

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