Bibliome.ai browser hg19
Search
About
Stats
FAQ
PKD1 c.8161+23C>T
Variant ID: 16-2154476-G-A
NM_001009944.2(
PKD1
):c.8161+23C>T
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:
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08
Variant appearance in text: PKD1: 8161+23C>T
PubMed Link:
27499327
Variant Present in the following documents:
srep30850-s8.xlsx, sheet 1
View BVdb publication page
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18
Variant appearance in text: PKD1: 8161+23C>T
PubMed Link:
22008521
Variant Present in the following documents:
Main text
1471-2369-12-57.pdf
View BVdb publication page