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Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families with Alport Syndrome.

Agne Cerkauskaite,Judy Savige,Karolina Janonyte, Ieva Jeremiciute,Marius Miglinas,Edita Kazenaite,Arvydas Laurinavicius,Rasa Strupaite-Sileikiene,Vija Vainutiene,Birute Burnyte,Augustina Jankauskiene,Arndt Rolfs,Peter Bauer,Sabine Schroeder,Rimante Cerkauskiene

Frontiers in Medicine（2022）

Cited 2|Views6
Key words
Alport syndrome,novel,digenic inheritance,genotype-phenotype correlation
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