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: Gly527Cys

PubMed Link: 35419377

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: COL4A5: G527C

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page