Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

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Authors: Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite & Judy Savige

Journal title: Scientific Reports

Journal number: 2722

Journal publisher: Nature Publishing Group

Published year: 2022

DOI identifier: 10.1038/s41598-022-06525-9

ISSN: 2045-2322