Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female with Fragile X Syndrome.

Alejandro Parra, Juan A Jimenez-Estrada, Valeria Vásquez-Amell, Mario Cazalla, Manuel Rodríguez-Canó, Natalia Gallego-Zazo, Lucia Miranda, Mónica Mora-Gómez,Elena Vallespín,Rocío Mena, Luis Fernández,Cristina Silván,Pedro Arias, Marta Dominguez-Jiménez,Encarna Guillén-Navarro,Julián Nevado, Jair Tenorio-Castano,Víctor L Ruiz-Pérez,Pablo Lapunzina

Clinical genetics（2025）

Cited 0|Views2

AI Read Science

Must-Reading Tree

Example

Generate MRT to find the research sequence of this paper

Chat Paper

Summary is being generated by the instructions you defined