PKD1 c.1286G>C ;(p.W429S)

Variant ID: 16-2167589-C-G

NM_001009944.2(PKD1):c.1286G>C;(p.W429S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.

Scientific Reports
Ameku, Tomonaga T; Taura, Daisuke D; Sone, Masakatsu M; Numata, Tomohiro T; Nakamura, Masahiro M; Shiota, Fumihiko F; Toyoda, Taro T; Matsui, Satoshi S; Araoka, Toshikazu T; Yasuno, Tetsuhiko T; Mae, Shin-Ichi S; Kobayashi, Hatasu H; Kondo, Naoya N; Kitaoka, Fumiyo F; Amano, Naoki N; Arai, Sayaka S; Ichisaka, Tomoko T; Matsuura, Norio N; Inoue, Sumiko S; Yamamoto, Takuya T; Takahashi, Kazutoshi K; Asaka, Isao I; Yamada, Yasuhiro Y; Ubara, Yoshifumi Y; Muso, Eri E; Fukatsu, Atsushi A; Watanabe, Akira A; Sato, Yasunori Y; Nakahata, Tatsutoshi T; Mori, Yasuo Y; Koizumi, Akio A; Nakao, Kazuwa K; Yamanaka, Shinya S; Osafune, Kenji K
Publication Date: 2016-07-15

Variant appearance in text: PKD1: W429S
PubMed Link: 27418197
Variant Present in the following documents:
  • Main text
  • srep30013.pdf
View BVdb publication page