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Updated: Jan 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在RASopathy谱基因中的生殖系激活序列变异:北印度队列中的基因型-表型相关性

Shifali Gupta1, Priyanka Srivastava1, Roshan Daniel1

  • 1Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Frontiers in genetics
|November 26, 2025
PubMed
概括

拉索病,由RAS/MAPK路径基因变异引起的发育障碍,在北印度表现出多样化的临床和遗传特征. 下一代测序有助于诊断,并确定了潜在的药物基因相互作用.

关键词:
拉索病症是一种拉索病症.药物药物相互作用 基因相互作用基因型-表型相关性相关性生殖系变体的生殖系变体这是下一代测序.

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