Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.L29fs
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ZDHHC2

NM_016353.5:p.L29fs

Associated Papers

Is Gauchian genotyping of GBA1 variants reliable?

Tayebi N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Wolf P et al.

Molecular Genetics and Metabolism, 2018

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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."