Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y40F
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INS

NM_000207.3:p.Y40F

Associated Papers

Role that each NKG2A immunoreceptor tyrosine-based inhibitory motif plays in mediating the human CD94/NKG2A inhibitory signal.

Kabat J et al.

Journal of Immunology (baltimore, Md. : 1950), 2002

Abnormal glycosylation of procathepsin L due to N-terminal point mutations correlates with failure to sort to lysosomes.

Chapman RL et al.

The Journal of Biological Chemistry, 1997

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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."