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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRCP

Variant:p.D143delFs

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CRCP

NM_014478.5:p.D143delFs

hg38:chr7:66152335 TG>T

Associated Papers

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Fernández-Marmiesse A et al.

Orphanet Journal of Rare Diseases, 2014

24767253 (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."