Varaico: Literature-Extracted Genetic Variants

Gene:MCM3AP
Variant:p.P443S
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MCM3AP

NM_003906.5:p.P443S

Associated Papers

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E et al.

Brain : a Journal of Neurology, 2017

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

Gatz SA et al.

Human Mutation, 2016

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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."