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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZDHHC2

Variant:p.A125Splc

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ZDHHC2

NM_016353.5:p.A125Splc

hg38:chr8:17195625 G>A

Associated Papers

Detection of 12 new mutations in Gaucher disease Brazilian patients.

Rozenberg R et al.

Blood Cells, Molecules & Diseases, 0

17059888 (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."