Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.C479_I481del0
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NPC1

NM_000271.5:p.C479_I481del0

Associated Papers

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
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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."