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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. Click to show full 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.
Keywords:
family;
observation genetic;
analysis syns1;
clinical observation;
genetic analysis;
syns1 family
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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recommendations!