Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1‐mutation due to uniparental disomy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1‐mutation due to uniparental disomy

Authors:	Ingo Kurth,Manuela Baumgartner,Maria Schabhü ttl,Cecilia Tomni,Reinhard Windhager,Tim M. Strom,Thomas Wieland,Kurt Gremel,Michaela Auer‐Grumbach

Abstract:

Keywords:	CIPA HSAN IV NTRK1 uniparental disomy whole exome sequencing