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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELK3

Variant:p.P289L

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ELK3

NM_005230.4:p.P289L

hg38:chr12:96247598 C>T

Associated Papers

Glucocerebrosidase (Gaucher disease).

Beutler E et al.

Human Mutation, 1996

8889578 (PubMed )

Mutations causing Gaucher disease.

Horowitz M et al.

Human Mutation, 1994

8118460 (PubMed )

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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."