Varaico: Literature-Extracted Genetic Variants

Gene:DOCK11
Variant:p.L242P
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DOCK11

NM_144658.4:p.L242P

Associated Papers

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Gambineri E et al.

The Journal of Allergy and Clinical Immunology, 2008

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.

Seow HF et al.

Nature Genetics, 2004

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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."