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Updated: Jun 23, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

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一种新的RYR1致病变体 - 在利比亚犹太人中很常见,并与广泛的表型谱相关

Miriam Regev1, Amir Dori2, Gheona Altarescu3

  • 1The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 5262000, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Gene
|June 24, 2024
PubMed
概括

一种新的RYR1基因变异在利比亚犹太人中很常见,与广泛的RyR1相关疾病有关,影响症状和无症状携带者.

关键词:
创始人的变体.基因型-表型 基因型-表型利比亚犹太人的利比亚犹太人.肌肉病症 肌肉病症是指肌肉病症.

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