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PKD1 c.11452G>C ;(p.G3818R)
Variant ID: 16-2141867-C-G
NM_001009944.2(
PKD1
):c.11452G>C;(p.G3818R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
PKD1-Dependent Renal Cystogenesis in Human Induced Pluripotent Stem Cell-Derived Ureteric Bud/Collecting Duct Organoids.
Journal Of The American Society Of Nephrology : Jasn
Kuraoka, Shohei S; Tanigawa, Shunsuke S; Taguchi, Atsuhiro A; Hotta, Akitsu A; Nakazato, Hitoshi H; Osafune, Kenji K; Kobayashi, Akio A; Nishinakamura, Ryuichi R
Publication Date: 2020-10
Variant appearance in text: PKD1: 11452G>C; G3818R
PubMed Link:
32747355
Variant Present in the following documents:
Main text
View BVdb publication page
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: G3818R
PubMed Link:
27418197
Variant Present in the following documents:
Main text
srep30013-s1.pdf
srep30013.pdf
View BVdb publication page