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LDLR c.890_893del ;(p.N297Rfs*72)
Variant ID: 19-11218140-AACAT-A
NM_000527.4(
LDLR
):c.890_893del;(p.N297Rfs*72)
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:
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Orphanet Journal Of Rare Diseases
Romdhane, Lilia L; Kefi, Rym R; Azaiez, Hela H; Ben Halim, Nizar N; Dellagi, Koussay K; Abdelhak, Sonia S
Publication Date: 2012-08-21
Variant appearance in text: LDLR: 890_893del
PubMed Link:
22908982
Variant Present in the following documents:
Main text
1750-1172-7-52.pdf
View BVdb publication page