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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPEB1

Variant:p.M233I

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CPEB1

NM_030594.5:p.M233I

hg38:chr15:82556030 C>T

Associated Papers

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Verdura E et al.

Brain : a Journal of Neurology, 2015

26063658 (PubMed )

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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."