Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.N133Splc
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MBD5

NM_001378120.1:p.N133Splc

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

37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf

[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria].

Castro-Gago M et al.

Revista De Neurologia, 2019

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