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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CC2D2A

Variant:p.Q974_V975Splc

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CC2D2A

NM_001378615.1:p.Q974_V975Splc

hg38:chr4:15560095 G>A

Associated Papers

Diagnostic utility of whole-genome sequencing for nephronophthisis.

Larrue R et al.

Npj Genomic Medicine, 2020

33024573 (PubMed )

Supplement: 41525_2020_147_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."