Varaico: Literature-Extracted Genetic Variants

Gene:YY1AP1
Variant:p.E636fs
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YY1AP1

NM_001198903.1:p.E636fs

Associated Papers

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

Raggio V et al.

Human Genomics, 2021

Grange syndrome due to homozygous YY1AP1 missense rare variants.

Ciuffetelli Alamo IV et al.

American Journal of Medical Genetics. Part A, 2019

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Guo DC et al.

American Journal of Human Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."