Publications:

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.

Cen Case Reports

Aoto, Yuya Y; Kise, Tomoo T; Nakanishi, Koichi K; Nagano, China C; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Ishiko, Shinya S; Sakakibara, Nana N; Shima, Yuko Y; Morisada, Naoya N; Iijima, Kazumoto K; Nozu, Kandai K

Publication Date: 2020-11

Variant appearance in text: COL4A5: Gly123Ser

PubMed Link: 32621070

Variant Present in the following documents:

• Main text

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