GenomicsbioRxivPreprint
Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, Brazil
Washington Candeia de Araújo, Raul Maia Falcão, Raquel Araújo Costa Uchôa…·Selma M. B. Jerônimo
The paper identifies novel deleterious variants in COL4A3 and COL4A4 in two unrelated Brazilian families with Alport Syndrome, linked to inbreeding through runs of homozygosity.
DOI 10.1101/2019.12.17.878918