Varaico: Literature-Extracted Genetic Variants

Gene:HES1
Variant:p.L65P
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HES1

NM_005524.4:p.L65P

Associated Papers

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

Henderson HE et al.

The Journal of Clinical Investigation, 1991

Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency.

Henderson HE et al.

Molecular Biology & Medicine, 1990

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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."