Varaico: Literature-Extracted Genetic Variants

Gene:KIRREL1
Variant:p.S573L
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KIRREL1

NM_018240.7:p.S573L

Associated Papers

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Villacis RAR et al.

International Journal of Molecular Sciences, 2024

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Lewis MA et al.

Plos Genetics, 2023

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.

Solanki AK et al.

Kidney International, 2019

Novel Variations in KIRREL1 Gene and Infantile Onset Nephrotic Syndrome.

Abhinay A et al.

Indian Journal of Nephrology, 0

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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."