Varaico: Literature-Extracted Genetic Variants

Gene:YY1AP1
Variant:p.A333Splc
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YY1AP1

NM_001198903.1:p.A333Splc

Associated Papers

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

Karakaya T et al.

Molecular Syndromology, 2023

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Saida K et al.

Journal of Human Genetics, 2019

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Rath M et al.

American Journal of Medical Genetics. Part A, 2019

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