Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

We discovered biallelic intragenic structural variations (SVs) in FGF12 by applying long-read whole genome sequencing to an exome-negative patient with developmental and epileptic encephalopathy (DEE). We also found another DEE patient carrying a biallelic (homozygous) single-nucleotide variant (SNV...

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Detalles Bibliográficos
Autores principales: Ohori, Sachiko, Miyauchi, Akihiko, Osaka, Hitoshi, Lourenco, Charles Marques, Arakaki, Naohiro, Sengoku, Toru, Ogata, Kazuhiro, Honjo, Rachel Sayuri, Kim, Chong Ae, Mitsuhashi, Satomi, Frith, Martin C, Seyama, Rie, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Saito, Kuniaki, Fujita, Atsushi, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248215/
https://www.ncbi.nlm.nih.gov/pubmed/37286232
http://dx.doi.org/10.26508/lsa.202302025

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