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PKD1 c.1597C>T ;(p.Q533*)
Variant ID: 16-2166843-G-A
NM_001009944.2(
PKD1
):c.1597C>T;(p.Q533*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Review on kidney diseases: types, treatment and potential of stem cell therapy.
Renal Replacement Therapy
Singh, Jaspreet J; Singh, Sanjeev S
Publication Date: 2023
Variant appearance in text: PKD1: Q533X
PubMed Link:
37131920
Variant Present in the following documents:
41100_2023_Article_475.pdf
View BVdb publication page
Opportunities and Challenges of Human IPSC Technology in Kidney Disease Research.
Biomedicines
Lee, Jia-Jung JJ; Lin, Chuang-Yu CY; Chen, Hung-Chun HC; Hsieh, Patrick C H PCH; Chiu, Yi-Wen YW; Chang, Jer-Ming JM
Publication Date: 2022-12-12
Variant appearance in text: PKD1: Q533X
PubMed Link:
36551987
Variant Present in the following documents:
biomedicines-10-03232.pdf
View BVdb publication page
Human iPSC banking: barriers and opportunities.
Journal Of Biomedical Science
Huang, Ching-Ying CY; Liu, Chun-Lin CL; Ting, Chien-Yu CY; Chiu, Yueh-Ting YT; Cheng, Yu-Che YC; Nicholson, Martin W MW; Hsieh, Patrick C H PCH
Publication Date: 2019-10-28
Variant appearance in text: PKD1: Q533X
PubMed Link:
31660969
Variant Present in the following documents:
12929_2019_Article_578.pdf
View BVdb publication page
Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes.
Ebiomedicine
Lee, Jia-Jung JJ; Cheng, Sin-Jhong SJ; Huang, Ching-Ying CY; Chen, Chen-Yun CY; Feng, Li L; Hwang, Daw-Yang DY; Kamp, Timothy J TJ; Chen, Hung-Chun HC; Hsieh, Patrick C H PCH
Publication Date: 2019-02
Variant appearance in text: PKD1: Q533X
PubMed Link:
30639418
Variant Present in the following documents:
Main text
mmc1.pdf
main.pdf
View BVdb publication page