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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.S3265_W3267del0

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PKD1

NM_001009944.3:p.S3265_W3267del0

hg38:chr16:2099984 CATATGG>C

Associated Papers

Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.

Xu D et al.

Clinical Chemistry, 2024

38527221 (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."