Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A2894_V2897del0
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PKD1

NM_001009944.3:p.A2894_V2897del0

Associated Papers

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Lu H et al.

Bmc Cancer, 2018

29506494 (PubMed )
Supplement: 12885_2018_4159_MOESM2_ESM.xlsx › Sheet1

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Yu C et al.

Bmc Medical Genetics, 2011

High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bataille S et al.

Bmc Nephrology, 2011

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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."