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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASP5

Variant:p.R316*

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CASP5

NM_004347.5:p.R316*

hg38:chr11:105000267 T>A

Associated Papers

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

31866997 (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."