Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.I175V
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C1QTNF5

NM_001278431.2:p.I175V

Associated Papers

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Stanton CM et al.

Scientific Reports, 2017

28939808 (PubMed )
Supplement: 41598_2017_11898_MOESM1_ESM.pdf
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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."