RORA c.281A>G ;(p.K94R)

Variant ID: 15-60823966-T-C

NM_134261.2(RORA):c.281A>G;(p.K94R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RORA: 281A>G; Lys94Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

American Journal Of Human Genetics
Guissart, Claire C; Latypova, Xenia X; Rollier, Paul P; Khan, Tahir N TN; Stamberger, Hannah H; McWalter, Kirsty K; Cho, Megan T MT; Kjaergaard, Susanne S; Weckhuysen, Sarah S; Lesca, Gaetan G; Besnard, Thomas T; Õunap, Katrin K; Schema, Lynn L; Chiocchetti, Andreas G AG; McDonald, Marie M; de Bellescize, Julitta J; Vincent, Marie M; Van Esch, Hilde H; Sattler, Shannon S; Forghani, Irman I; Thiffault, Isabelle I; Freitag, Christine M CM; Barbouth, Deborah Sara DS; Cadieux-Dion, Maxime M; Willaert, Rebecca R; Guillen Sacoto, Maria J MJ; Safina, Nicole P NP; Dubourg, Christèle C; Grote, Lauren L; Carré, Wilfrid W; Saunders, Carol C; Pajusalu, Sander S; Farrow, Emily E; Boland, Anne A; Karlowicz, Danielle Hays DH; Deleuze, Jean-François JF; Wojcik, Monica H MH; Pressman, Rena R; Isidor, Bertrand B; Vogels, Annick A; Van Paesschen, Wim W; Al-Gazali, Lihadh L; Al Shamsi, Aisha Mohamed AM; Claustres, Mireille M; Pujol, Aurora A; Sanders, Stephan J SJ; Rivier, François F; Leboucq, Nicolas N; Cogné, Benjamin B; Sasorith, Souphatta S; Sanlaville, Damien D; Retterer, Kyle K; Odent, Sylvie S; Katsanis, Nicholas N; Bézieau, Stéphane S; Koenig, Michel M; Davis, Erica E EE; Pasquier, Laurent L; Küry, Sébastien S
Publication Date: 2018-05-03

Variant appearance in text: RORA: 281A>G; K94R
PubMed Link: 29656859
Variant Present in the following documents:
  • Main text
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