Varaico: Literature-Extracted Genetic Variants

Gene:CDK5RAP2
Variant:p.Q175R
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CDK5RAP2

NM_018249.6:p.Q175R

Associated Papers

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.

Li MH et al.

American Journal of Medical Genetics. Part A, 2015

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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."