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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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