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Updated: Jun 12, 2025

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对以前报告的OCRL拼接变种及其表型贡献的全面拼接模式分析.

Rini Rossanti1,2, Eri Okada1, Nana Sakakibara1

  • 1Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Kidney international reports
|June 9, 2025
PubMed
概括

洛伊 (OCRL) 基因的眼脑脑神经综合征的遗传变异导致丹特病-2和洛伊综合征. 这项研究阐明了OCRL拼接变体如何与这些独特的表型相关,改善了诊断理解.

关键词:
丹特病-2 - 丹特病的第二种病.洛伊综合征是洛伊综合征的一种症状.美国OCRLRL拼接 拼接 拼接 拼接这种异形异形是什么?迷你基因系统系统

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