Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C142_G147delFs
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GLA

NM_000169.3:p.C142_G147delFs

Associated Papers

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

Liao HC et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."