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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBD5

Variant:p.N254_P255del2

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MBD5

NM_001378120.1:p.N254_P255del2

hg38:chr2:148468701 GTAATCC>G

Associated Papers

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Silva S et al.

Clinical Genetics, 2025

39763067 (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."