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Ayan Dasvarma
Ayan Dasvarma
Royal Children's Hospital
Genetics
Point mutation
GRACILE syndrome
BCS1L
Biology
3
Papers
281
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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
2014
American Journal of Human Genetics
Sze Chern Lim
Katherine R. Smith
David A. Stroud
Alison G. Compton
Elena J. Tucker
Ayan Dasvarma
Luke C. Gandolfo
Justine E. Marum
Matthew McKenzie
Heidi Peters
David Mowat
Peter Procopis
Bridget Wilcken
John Christodoulou
Garry K. Brown
Michael T. Ryan
Melanie Bahlo
David R. Thorburn
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Citations (47)
GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism
2002
Ilona Visapää
Fellman
Jouni Vesa
Ayan Dasvarma
Jane L. Hutton
Kumar
Gregory S. Payne
Marja Makarow
Van, Coster, R
Robert W. Taylor
Douglass M. Turnbull
Anu Suomalainen
Leena Peltonen
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GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
2002
American Journal of Human Genetics
Ilona Visapää
Vineta Fellman
Jouni Vesa
Ayan Dasvarma
Jenna L. Hutton
Vijay Kumar
Gregory S. Payne
Marja Makarow
Rudy Van Coster
Robert W. Taylor
Douglass M. Turnbull
Anu Suomalainen
Leena Peltonen
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Citations (234)
1