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Vascular Ehlers-Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly-X-Y) repeat.
Shujiro Hayashi
Wu Lin
Yoichiro Hamasaki
Ken Igawa
Published in:
The Journal of dermatology (2020)
Keyphrases
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case report
genome wide
copy number
genome wide identification
amino acid
transcription factor