DHCR7 c.1055G>T ;(p.R352L)

Variant ID: 11-71146794-C-A

NM_001360.2(DHCR7):c.1055G>T;(p.R352L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: DHCR7: R352L; rs121909768
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

The Pharmacogenomics Journal
Boland, M R MR; Tatonetti, N P NP
Publication Date: 2016-10

Variant appearance in text: DHCR7: R352L; rs121909768
PubMed Link: 27401223
Variant Present in the following documents:
  • Main text
  • tpj201648x2.xlsx, sheet 1
View BVdb publication page