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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFGE8

Variant:p.T68_K69insFs

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MFGE8

NM_005928.4:p.T68_K69insFs

hg38:chr15:88909793 C>CG

Associated Papers

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V et al.

American Journal of Human Genetics, 2000

10796875 (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."