Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.C56R
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MID1

NM_000381.4:p.C56R

Associated Papers

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.

Mascaro M et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

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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."