Publications:

Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.

Kidney International Reports

Bu, Lihong L; Chen, Judy J; Nelson, Andrew C AC; Katz, Avi A; Kashtan, Clifford E CE; Kim, Youngki Y; Pierpont, Mary Ella ME

Publication Date: 2019-07

Variant appearance in text: COL4A5: 4787G>T

PubMed Link: 31312776

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

European Journal Of Human Genetics : Ejhg

Fu, Xue Jun XJ; Nozu, Kandai K; Kaito, Hiroshi H; Ninchoji, Takeshi T; Morisada, Naoya N; Nakanishi, Koichi K; Yoshikawa, Norishige N; Ohtsubo, Hiromi H; Matsunoshita, Natsuki N; Kamiyoshi, Naohiro N; Matsumura, Chieko C; Takagi, Nobuaki N; Maekawa, Kohei K; Taniguchi-Ikeda, Mariko M; Iijima, Kazumoto K

Publication Date: 2016-03

Variant appearance in text: COL4A5: 4787G>T; Gly1596Val

PubMed Link: 26014433

Variant Present in the following documents:

• Main text

View BVdb publication page