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HR c.1175A>C ;(p.E392A)
Variant ID: 8-21984780-T-G
NM_005144.4(
HR
):c.1175A>C;(p.E392A)
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:
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Saudi Medical Journal
Alhashem, Amal A; Mohamed, Sarar S; Abdelraheem, Manal M; AlGufaydi, Bushra B; Al-Aqeel, Aida A
Publication Date: 2020-06
Variant appearance in text: HR: 1175A>C; E392A
PubMed Link:
32518924
Variant Present in the following documents:
SaudiMedJ-41-590.pdf
View BVdb publication page
The nicking endonuclease N.BstNBI is closely related to type IIs restriction endonucleases MlyI and PleI.
Nucleic Acids Research
Higgins, L S LS; Besnier, C C; Kong, H H
Publication Date: 2001-06-15
Variant appearance in text: HR: E392A
PubMed Link:
11410656
Variant Present in the following documents:
Main text
View BVdb publication page