Publications:

Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family.

Annals Of Translational Medicine

Chen, Xiaolei X; Ye, Nan N; Zhang, Lu L; Zheng, Wen W; Cheng, Jingqiu J; Gong, Meng M

Publication Date: 2021-09

Variant appearance in text: COL4A5: Gly292Gly

PubMed Link: 34733972

Variant Present in the following documents:

• atm-09-18-1420.pdf

View BVdb publication page

Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.

Kidney Research And Clinical Practice

Nozu, Kandai K; Takaoka, Yutaka Y; Kai, Hirofumi H; Takasato, Minoru M; Yabuuchi, Kensuke K; Yamamura, Tomohiko T; Horinouchi, Tomoko T; Sakakibara, Nana N; Ninchoji, Takeshi T; Nagano, China C; Iijima, Kazumoto K

Publication Date: 2020-12-31

Variant appearance in text: COL4A5: Gly292Gly

PubMed Link: 33214343

Variant Present in the following documents:

• KRCP-39-402.pdf

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X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Orphanet Journal Of Rare Diseases

Zhang, Xiao X; Zhang, Yanqin Y; Zhang, Yanmei Y; Gu, Hongbo H; Chen, Zhe Z; Ren, Lei L; Lu, Xingxing X; Chen, Li L; Wang, Fang F; Liu, Yuhe Y; Ding, Jie J

Publication Date: 2018-12-22

Variant appearance in text: COL4A5: Gly292Gly

PubMed Link: 30577881

Variant Present in the following documents:

• 13023_2018_Article_974.pdf

View BVdb publication page