Varaico: Literature-Extracted Genetic Variants

Gene:KNL1
Variant:p.D2187G
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KNL1

NM_170589.5:p.D2187G

Associated Papers

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

Fellows BJ et al.

American Journal of Medical Genetics. Part A, 2024

First clinical report of an infant with microcephaly and CASC5 mutations.

Zarate YA et al.

American Journal of Medical Genetics. Part A, 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."