Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.M1I
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PODXL

NM_001018111.3:p.M1I

Associated Papers

Novel Truncating Variants in PODXL Represent a New Entity to Be Explored Among Podocytopathies.

García-Aznar JM et al.

Genes, 2025

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.

Marx D et al.

Molecular Genetics & Genomic Medicine, 2021

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Kang HG et al.

Experimental & Molecular Medicine, 2017

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