Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.V141F
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NCKAP1L

NM_005337.5:p.V141F

Associated Papers

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

Cook S et al.

Journal of Clinical Immunology, 2022

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

Castro CN et al.

The Journal of Experimental Medicine, 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."