Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E2779fs
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PKD1

NM_001009944.3:p.E2779fs

Associated Papers

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).

Koenigbauer JT et al.

Archives of Gynecology and Obstetrics, 2024

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

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

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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."