Associated Papers
Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 2.
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Journal of Rural Medicine : Jrm, 2023
Rho GTPase regulatory proteins in podocytes.
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Kidney International, 2021
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S et al.
Nature Communications, 2018
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