Whole genome sequencing reveals a frameshift mutation and a large deletion in yy1ap1 in a girl with a panvascular artery disease

HIGHLIGHTS

• who: Víctor Raggio from the Montevideo, Uruguay Department of Informatics and Computer Science, Universidad Católica del have published the research work: Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease, in the Journal: (JOURNAL)
• what: The authors report the case of a 7-year-old girl with a severe panvascular artery disease without a diagnosis. Using the WGS, the authors assess the SNPs in Table S1 and calculated the score for the patient.

SUMMARY

The authors performed . . .

 



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