Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.S120N
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EP300

NM_001429.4:p.S120N

Associated Papers

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.

Cohen JL et al.

American Journal of Medical Genetics. Part A, 2020

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