Publications:

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Genes

Van Heurck, Roxane R; Carminho-Rodrigues, Maria Teresa MT; Ranza, Emmanuelle E; Stafuzza, Caterina C; Quteineh, Lina L; Gehrig, Corinne C; Hammar, Eva E; Guipponi, Michel M; Abramowicz, Marc M; Senn, Pascal P; Guinand, Nils N; Cao-Van, Helene H; Paoloni-Giacobino, Ariane A

Publication Date: 2021-08-20

Variant appearance in text: COL4A5: 1525G>C; Gly509Arg

PubMed Link: 34440452

Variant Present in the following documents:

• Main text
• genes-12-01277.pdf

View BVdb publication page

Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.

Kidney International Reports

Kamura, Misato M; Yamamura, Tomohiko T; Omachi, Kohei K; Suico, Mary Ann MA; Nozu, Kandai K; Kaseda, Shota S; Kuwazuru, Jun J; Shuto, Tsuyoshi T; Iijima, Kazumoto K; Kai, Hirofumi H

Publication Date: 2020-05

Variant appearance in text: COL4A5: G509R

PubMed Link: 32405592

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page