Varaico: Literature-Extracted Genetic Variants

Gene:KIF22
Variant:p.R232Q
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KIF22

NM_007317.3:p.R232Q

Associated Papers

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Min BJ et al.

American Journal of Human Genetics, 2011

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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."