Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.T766delFs
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MBD5

NM_001378120.1:p.T766delFs

Associated Papers

A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.

Martins M et al.

International Journal of Molecular Sciences, 2023

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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."