Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.A473delFs
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INVS

NM_014425.5:p.A473delFs

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

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J et al.

Human Genetics, 2013

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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."