Varaico: Literature-Extracted Genetic Variants

Gene:LONP1
Variant:p.E846K
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LONP1

NM_004793.4:p.E846K

Associated Papers

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Parikh JR et al.

Hgg Advances, 2021

34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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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."