Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.M2189_Q2193del0
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EP300

NM_001429.4:p.M2189_Q2193del0

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Argyropoulos KV et al.

Blood Cancer Journal, 2020

33168809 (PubMed )
Supplement: 41408_2020_380_MOESM3_ESM.xlsx › Sheet1

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Fieremans N et al.

Human Mutation, 2016

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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."