HR c.3373dup ;(p.H1125Pfs*20)

Variant ID: 8-21974392-T-TG

NM_005144.4(HR):c.3373dup;(p.H1125Pfs*20)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Human Mutation
Johnston, Jennifer J JJ; Sapp, Julie C JC; Turner, Joyce T JT; Amor, David D; Aftimos, Salim S; Aleck, Kyrieckos A KA; Bocian, Maureen M; Bodurtha, Joann N JN; Cox, Gerald F GF; Curry, Cynthia J CJ; Day, Ruth R; Donnai, Dian D; Field, Michael M; Fujiwara, Ikuma I; Gabbett, Michael M; Gal, Moran M; Graham, John M JM; Hedera, Peter P; Hennekam, Raoul C M RC; Hersh, Joseph H JH; Hopkin, Robert J RJ; Kayserili, Hülya H; Kidd, Alexa M J AM; Kimonis, Virginia V; Lin, Angela E AE; Lynch, Sally Ann SA; Maisenbacher, Melissa M; Mansour, Sahar S; McGaughran, Julie J; Mehta, Lakshmi L; Murphy, Helen H; Raygada, Margarita M; Robin, Nathaniel H NH; Rope, Alan F AF; Rosenbaum, Kenneth N KN; Schaefer, G Bradley GB; Shealy, Amy A; Smith, Wendy W; Soller, Maria M; Sommer, Annmarie A; Stalker, Heather J HJ; Steiner, Bernhard B; Stephan, Mark J MJ; Tilstra, David D; Tomkins, Susan S; Trapane, Pamela P; Tsai, Anne Chun-Hui AC; Van Allen, Margot I MI; Vasudevan, Pradeep C PC; Zabel, Bernhard B; Zunich, Janice J; Black, Graeme C M GC; Biesecker, Leslie G LG
Publication Date: 2010-10

Variant appearance in text: HR: 3371dupC
PubMed Link: 20672375
Variant Present in the following documents:
  • Main text
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