Varaico: Literature-Extracted Genetic Variants

Gene:ITSN1
Variant:p.P180S
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ITSN1

NM_003024.3:p.P180S

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Rho GTPase regulatory proteins in podocytes.

Matsuda J et al.

Kidney International, 2021

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S et al.

Nature Communications, 2018

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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."