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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EP300

Variant:p.M2189_Q2193del5

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EP300

NM_001429.4:p.M2189_Q2193del5

hg38:chr22:41178274 TGATGCAACAGCAGCA>T

Associated Papers

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

Fieremans N et al.

Human Mutation, 2016

27159028 (PubMed )

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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."