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Jose Velilla
Jose Velilla
Harvard University
Proband
Dominance (genetics)
Biology
Exome sequencing
Genetics
3
Papers
8
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0
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Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
2019
Neurology Genetics
Jose Velilla
Michael Mario Marchetti
Ágnes Tóth-Petróczy
Claire A Grosgogeat
Alexis H. Bennett
Nikkola Carmichael
Elicia Estrella
Basil T. Darras
Natasha Y. Frank
Joel B. Krier
Rachelle Gaudet
Vandana Gupta
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Citations (8)
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
2018
bioRxiv
Jose Velilla
Michael M Marchetti
Ágnes Tóth-Petróczy
Claire A Grosgogeat
Alexis H. Bennett
Nikkola Carmichael
Elicia Estrella
Basil T. Darras
Natasha Y. Frank
Joel B. Krier
Rachelle Gaudet
Vandana Gupta
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Homozygous TRPV4 loss-of-function mutation causes a severe form of distal Hereditary Motor Neuropathy (dHMN)
2018
bioRxiv
Michael Mario Marchetti
Ágnes Tóth-Petróczy
Claire A Grosgogeat
Jose Velilla
Alexis H. Bennett
Nikkola Carmichael
Elicia Estrella
Basil T. Darras
Natasha Y. Frank
Joel B. Krier
Rachelle Gaudet
Vandana Gupta
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