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.




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