PAH c.314del ;(p.T105Mfs*90)

Variant ID: 12-103288551-AG-A

NM_000277.1(PAH):c.314del;(p.T105Mfs*90)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Nature Communications
Gräf, Stefan S; Haimel, Matthias M; Bleda, Marta M; Hadinnapola, Charaka C; Southgate, Laura L; Li, Wei W; Hodgson, Joshua J; Liu, Bin B; Salmon, Richard M RM; Southwood, Mark M; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Aldred, Micheala M; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Newnham, Michael M; Olschewski, Andrea A; Olschewski, Horst H; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Stein, Dan F DF; Suntharalingam, Jay J; Swietlik, Emilia M EM; Toshner, Mark R MR; van Heel, David A DA; Vonk Noordegraaf, Anton A; Waisfisz, Quinten Q; Wharton, John J; Wort, Stephen J SJ; Ouwehand, Willem H WH; Soranzo, Nicole N; Lawrie, Allan A; Upton, Paul D PD; Wilkins, Martin R MR; Trembath, Richard C RC; Morrell, Nicholas W NW
Publication Date: 2018-04-12

Variant appearance in text: PAH: 314delC
PubMed Link: 29650961
Variant Present in the following documents:
  • 41467_2018_3672_MOESM1_ESM.xlsx, sheet 1
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