Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.F3257_F3258delFs
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PKD1

NM_001009944.3:p.F3257_F3258delFs

Associated Papers

Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease.

Nigro E et al.

International Journal of Molecular Sciences, 2024

38892431 (PubMed )
Supplement: ijms-25-06243-s001.zip › ijms-2979393-supplementary.pdf

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

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-s4.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."