Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2264*
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PKD1

NM_001009944.3:p.S2264*

Associated Papers

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Yilmaz K et al.

Frontiers in Pediatrics, 2024

38464892 (PubMed )
Supplement: Table1.xlsx › Sayfa1

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_motif
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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."