Varaico: Literature-Extracted Genetic Variants

Gene:YY1AP1
Variant:p.P360L
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YY1AP1

NM_001198903.1:p.P360L

Associated Papers

The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1.

Karakaya T et al.

Molecular Syndromology, 2023

Grange syndrome due to homozygous YY1AP1 missense rare variants.

Ciuffetelli Alamo IV et al.

American Journal of Medical Genetics. Part A, 2019

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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."