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Josefina Perez Maturo
Josefina Perez Maturo
National Scientific and Technical Research Council
Genetics
Biology
LMNA
Germline mosaicism
DNA sequencing
3
Papers
4
Citations
0
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Novel variants in ATM causing mild Ataxia‐Telangiectasia : from benchside to bedside and back again
2020
Movement Disorders Clinical Practice
Josefina Perez Maturo
Marcela González-Cid
Lucía Zavala
Sergio Rodriguez Quiroga
Marcelo Andrés Kauffman
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Genomic variability: germline, somatic, and de novo variants
2020
Josefina Perez Maturo
Valeria Salinas
Marcelo Andrés Kauffman
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Inferring parental gonadal mosaicism in LMNA ‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
2019
American Journal of Medical Genetics Part A
Josefina Perez Maturo
Patricia Vega
Nancy Medina
Valeria Salinas
Micaela Pauni
Guillermo Agosta
Javier Muntadas Rausei
Marcelo Kauffman
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Citations (3)
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