Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.G293R
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CAPN5

NM_004055.5:p.G293R

Associated Papers

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Velez G et al.

Cold Spring Harbor Molecular Case Studies, 2018

29472286 (PubMed )
Supplement: supp_mcs.a002519_Supplemental_Material.docx
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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."