Publications:

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

Frontiers In Medicine

Cerkauskaite, Agne A; Savige, Judy J; Janonyte, Karolina K; Jeremiciute, Ieva I; Miglinas, Marius M; Kazenaite, Edita E; Laurinavicius, Arvydas A; Strupaite-Sileikiene, Rasa R; Vainutiene, Vija V; Burnyte, Birute B; Jankauskiene, Augustina A; Rolfs, Arndt A; Bauer, Peter P; Schröder, Sabine S; Cerkauskiene, Rimante R

Publication Date: 2022

Variant appearance in text: COL4A5: 2777G>T; Gly926Val

PubMed Link: 35419377

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fmed-09-859521.pdf

View BVdb publication page

Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families.

Frontiers In Genetics

Wang, Sai S; Shao, Yingfei Y; Wang, Yixiu Y; Lu, Jingru J; Shao, Leping L

Publication Date: 2022

Variant appearance in text: COL4A5: 2777G>T; Gly926Val

PubMed Link: 35368650

Variant Present in the following documents:

• Main text
• fgene-13-847777.pdf

View BVdb publication page