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LRP4 c.796+2T>C
Variant ID: 11-46920107-A-G
NM_002334.3(
LRP4
):c.796+2T>C
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:
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Genome Biology
Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS
Publication Date: 2020-06-17
Variant appearance in text: LRP4: 796+2T>C
PubMed Link:
32552793
Variant Present in the following documents:
Main text
13059_2020_2053_MOESM2_ESM.xlsx, sheet 1
13059_2020_2053_MOESM3_ESM.xlsx, sheet 1
13059_2020_2053_MOESM8_ESM.xlsx, sheet 1
13059_2020_2053_MOESM9_ESM.xlsx, sheet 1
13059_2020_Article_2053.pdf
View BVdb publication page