Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.P150L
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MCPH1

NM_024596.5:p.P150L

Associated Papers

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE et al.

Human Mutation, 2013

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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."