Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.M371V
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NCKAP1L

NM_005337.5:p.M371V

Associated Papers

HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.

Cook S et al.

Journal of Clinical Immunology, 2022

WAVE regulatory complex.

Rottner K et al.

Current Biology : Cb, 2021

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.

Cook SA et al.

Science (new York, N.y.), 2020

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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."