Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L4046_L4047Splc
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PKD1

NM_001009944.3:p.L4046_L4047Splc

Associated Papers

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s8.xlsx › Sheet1
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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."