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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUCA1

Variant:p.D300E

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FUCA1

NM_000147.5:p.D300E

hg38:chr1:23854429 G>T

Associated Papers

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Puentes-Tellez MA et al.

Heliyon, 2020

32258481 (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."