Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.Q102_A105del4
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EP300

NM_001429.4:p.Q102_A105del4

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."