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Updated: Jun 29, 2025

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在俄罗斯队列中PTPN11的突变谱

Anna Orlova1, Daria Guseva2, Nina Demina2

  • 1SRC «Genome», Research Centre for Medical Genetics, 115522 Moscow, Russia.

Genes
|March 28, 2024
PubMed
概括

诺南综合征是一种遗传性疾病,通常是由PTPN11基因突变引起的. 这项研究在俄罗斯患者中发现了频繁的PTPN11变体和常见的努南综合征特征,如面部异形和心脏异常.

关键词:
子综合症 (Leopard Syndrome) 是一种严重的疾病.这是NSMLL.诺南综合征是什么意思在 PTPN11 基因上.人口研究 人口研究

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