Varaico: Literature-Extracted Genetic Variants

Gene:NEK9
Variant:p.L478fs
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NEK9

NM_033116.6:p.L478fs

Associated Papers

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Falb RJ et al.

Journal of Medical Genetics, 2023

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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."