Parcourir Publicaciones UAX par auteur "Esteban Sánchez, Ada"

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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants Valenzuela-Palomo, Alberto; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; Esteban Sánchez, Ada; Llinares Burguet, Inés; García Álvarez, Alicia; Pérez Segura, Pedro; Gómez Barrero, Susana; de la Hoya, Miguel; Velasco Sampedro, Eladio A. Date: 2022-09
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants Valenzuela Palomo, Alberto; Bueno Martínez, Elena; Sanoguera Miralles, Lara; Lorca, Víctor; Fraile Bethencourt, Eugenia; Esteban Sánchez, Ada; Gómez Barrero, Susana; Carvalho, Sara; Allen, Jamie; García Alvarez, Alicia; Pérez Segura, Pedro; Dorling, Leila; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike PG; de la Hoya, Miguel; Velasco, Eladio A Date: 2021-12

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