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LDLRAP1 c.421C>T ;(p.L141F)
Variant ID: 1-25883720-C-T
NM_015627.2(
LDLRAP1
):c.421C>T;(p.L141F)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Large-scale PRNP genotyping of small ruminants using an automated high-throughput MALDI-TOF MS assay.
Journal Of Veterinary Diagnostic Investigation : Official Publication Of The American Association Of Veterinary Laboratory Diagnosticians, Inc
Migliore, Sergio S; Bivona, Maurizio M; Gagliostro, Enrico E; Buttitta, Onofrio O; Lo Mascolo, Francesca F; Macrì, Daniele D
Publication Date: 2019-07
Variant appearance in text: ARH: L141F
PubMed Link:
31238800
Variant Present in the following documents:
Main text
View BVdb publication page
Genotyping and surveillance for scrapie in Finnish sheep.
Bmc Veterinary Research
Hautaniemi, Maria M; Tapiovaara, Hannele H; Korpenfelt, Sirkka-Liisa SL; Sihvonen, Liisa L
Publication Date: 2012-07-25
Variant appearance in text: ARH: L141F
PubMed Link:
22831168
Variant Present in the following documents:
Main text
1746-6148-8-122.pdf
View BVdb publication page
Ovine reference materials and assays for prion genetic testing.
Bmc Veterinary Research
Heaton, Michael P MP; Leymaster, Kreg A KA; Kalbfleisch, Theodore S TS; Freking, Brad A BA; Smith, Timothy P L TP; Clawson, Michael L ML; Laegreid, William W WW
Publication Date: 2010-04-30
Variant appearance in text: ARH: L141F
PubMed Link:
20433741
Variant Present in the following documents:
Main text
View BVdb publication page
Protective effect of the AT137RQ and ARQK176 PrP allele against classical scrapie in Sarda breed sheep.
Veterinary Research
Vaccari, Gabriele G; Scavia, Gaia G; Sala, Marcello M; Cosseddu, Gianmario G; Chiappini, Barbara B; Conte, Michela M; Esposito, Elena E; Lorenzetti, Raniero R; Perfetti, Gabriella G; Marconi, Paola P; Scholl, Francesco F; Barbaro, Katia K; Bella, Antonino A; Nonno, Romolo R; Agrimi, Umberto U
Publication Date: 2009
Variant appearance in text: ARH: L141F
PubMed Link:
19171116
Variant Present in the following documents:
Main text
vetres-40-19.pdf
View BVdb publication page
Susceptibility of sheep for scrapie as assessed by in vitro conversion of nine naturally occurring variants of PrP.
Journal Of Virology
Bossers, A A; de Vries, R R; Smits, M A MA
Publication Date: 2000-02
Variant appearance in text: ARH: L141F
PubMed Link:
10627551
Variant Present in the following documents:
Main text
View BVdb publication page