GC c.359dup ;(p.L121Afs*22)

Variant ID: 4-72631262-C-CT

NM_000583.3(GC):c.359dup;(p.L121Afs*22)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Brain Communications
Jurkute, Neringa N; Bertacchi, Michele M; Arno, Gavin G; Tocco, Chiara C; Kim, Ungsoo Samuel US; Kruszewski, Adam M AM; Avery, Robert A RA; Bedoukian, Emma C EC; Han, Jinu J; Ahn, Sung Jun SJ; Pontikos, Nikolas N; Acheson, James J; Davagnanam, Indran I; Bowman, Richard R; Kaliakatsos, Marios M; Gardham, Alice A; Wakeling, Emma E; Oluonye, Ngozi N; Reddy, Maddy Ashwin MA; Clark, Elaine E; Rosser, Elisabeth E; Amati-Bonneau, Patrizia P; Charif, Majida M; Lenaers, Guy G; Meunier, Isabelle I; Defoort, Sabine S; Vincent-Delorme, Catherine C; Robson, Anthony G AG; Holder, Graham E GE; Jeanjean, Luc L; Martinez-Monseny, Antonio A; Vidal-Santacana, Mariona M; Dominici, Chloé C; Gaggioli, Cedric C; Giordano, Nadia N; Caleo, Matteo M; Liu, Grant T GT; , ; Webster, Andrew R AR; Studer, Michèle M; Yu-Wai-Man, Patrick P
Publication Date: 2021

Variant appearance in text: GC: 359dupA
PubMed Link: 34466801
Variant Present in the following documents:
  • fcab162.pdf
View BVdb publication page



Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology
Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D
Publication Date: 2019-01-15

Variant appearance in text: GC: 358_359insA
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page