Work

Excess Burden of Rare Coding Variants in Mutation Intolerant Genes in Patients with Kidney Malformations

Year: 2021

Type: conference-abstract

Source: Journal of the American Society of Nephrology

DOI: 10.1681/asn.20213210s1430a

Authors: Hila Milo Rasouly, Sarath Babu Krishna Murthy, Gundula Povysil, Maddalena Marasa, Jeremiah Martino, Velibor Tasic, Enrico Fiaccadori, Gian Marco Ghiggeri, Giuseppe Masnata, Simone Sanna-Cherchi, Krzysztof Kiryluk, Ali G. Gharavi

Institutions: Columbia University Irving Medical Center, Ss. Cyril and Methodius University in Skopje, University of Parma, Istituto Giannina Gaslini, Azienda Ospedaliera G. Brotzu

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4396991565

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