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Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes
2012
Mafalda Mucciolo
Sonia Amabile
Ximena Bonilla
Michel Guipponi
Federico Santoni
C. Di Marco
C. Di Stefano
B. Gentilini
F. Lalatta
M. C. Digiglio
Elisabetta Lapi
Joussef Hayek
Giordano N
Cristina Ciuoli
Giovanni Di Cairano
Mario Messina
Francesca Mari
Alessandra Renieri
Stylianos E. Antonarakis
Keywords:
Genetics
Phenotype
Likely pathogenic
Dominance (genetics)
Biology
Correction
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