A Novel c.968C > T homozygous Mutation in the...

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A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay

Marcilla Vázquez, Carlos, Carrascosa Romero, María del Carmen, Martínez Gutiérrez, Andrés, Baquero Cano, María, Alfaro Ponce, Blanca, Dabad Moreno, María Jesús
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Journal:
Journal of Pediatric Genetics
DOI:
10.1055/s-0040-1710540
Date:
May, 2020
File:
PDF, 1.42 MB
2020
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