Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.E36K
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HAP1

NM_177977.3:p.E36K

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

Common mutations of the lipoprotein lipase gene and their clinical significance.

Gehrisch S

Current Atherosclerosis Reports, 1999

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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."