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A. Kamynina
A. Kamynina
UCL Institute of Child Health
Genetics
Exome sequencing
Loss function
Congenital muscular dystrophy
Biology
2
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Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies
2012
Neuromuscular Disorders
S. Cirak
R Foley
R. Herrmann
Tobias Willer
S. Elisabeth
M. Yau
Lina Brodd
S Torelli
A. Kamynina
Petr Vondráček
Helen Roper
C Longman
Rudolf Korinthenberg
Giovanni Marrosu
Peter Nürnberg
Plagnol
Matthew E. Hurles
C. Sewry
Kevin P. Campbell
T. Voit
Francesco Muntoni
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G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies
2012
Neuromuscular Disorders
Sebahattin Cirak
R Foley
R. Herrmann
Tobias Willer
S. Elisabeth
M. Yau
Lina Brodd
Silvia Torelli
A. Kamynina
Petr Vondráček
Helen Roper
Cheryl Longman
Rudolf Korinthenberg
Giovanni Marrosu
Peter Nürnberg
Vincent Plagnol
Matthew E. Hurles
Caroline Sewry
Kevin P. Campbell
T. Voit
Francesco Muntoni
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