Articles with "observation genetic" as a keyword



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Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1933

Abstract: Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high‐throughput sequencing approach. read more here.

Keywords: family; observation genetic; analysis syns1; clinical observation ... See more keywords