Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q39*
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APOE

NM_000041.4:p.Q39*

Associated Papers

Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's disease pathology.

Chemparathy A et al.

Neuron, 2024

APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology.

Chemparathy A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).

Bertolini S et al.

Clinical Genetics, 2000

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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."