DHRS4L2 c.224C>T ;(p.T75M)

Variant ID: 14-24459486-C-T

NM_198083.3(DHRS4L2):c.224C>T;(p.T75M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Scientific Reports
Awotoye, Waheed W; Mossey, Peter A PA; Hetmanski, Jacqueline B JB; Gowans, Lord J J LJJ; Eshete, Mekonen A MA; Adeyemo, Wasiu L WL; Alade, Azeez A; Zeng, Erliang E; Adamson, Olawale O; Naicker, Thirona T; Anand, Deepti D; Adeleke, Chinyere C; Busch, Tamara T; Li, Mary M; Petrin, Aline A; Aregbesola, Babatunde S BS; Braimah, Ramat O RO; Oginni, Fadekemi O FO; Oladele, Ayodeji O AO; Oladayo, Abimbola A; Kayali, Sami S; Olotu, Joy J; Hassan, Mohaned M; Pape, John J; Donkor, Peter P; Arthur, Fareed K N FKN; Obiri-Yeboah, Solomon S; Sabbah, Daniel K DK; Agbenorku, Pius P; Plange-Rhule, Gyikua G; Oti, Alexander Acheampong AA; Gogal, Rose A RA; Beaty, Terri H TH; Taub, Margaret M; Marazita, Mary L ML; Schnieders, Michael J MJ; Lachke, Salil A SA; Adeyemo, Adebowale A AA; Murray, Jeffrey C JC; Butali, Azeez A
Publication Date: 2022-07-11

Variant appearance in text: DHRS4L2: 224C>T; Thr75Met
PubMed Link: 35817949
Variant Present in the following documents:
  • 41598_2022_15885_MOESM1_ESM.pdf
View BVdb publication page