Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.P359L
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NCKAP1L

NM_005337.5:p.P359L

Associated Papers

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

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

Cook S et al.

Journal of Clinical Immunology, 2022

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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