Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Julie, Lauterborn"'
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Publikováno v:
eLife, Vol 11 (2022)
Loss-of-function variants in SYNGAP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple cellul
Externí odkaz:
https://doaj.org/article/b2d529b24e8e40d98531dc9a6b1666ca
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2632c3ea572bd76f5bc9d445cec22daf
https://doi.org/10.7554/elife.75707.sa2
https://doi.org/10.7554/elife.75707.sa2
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
SummaryLoss-of-function variants in SYNAGP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb18f076d5c40f09c226078126faafd
https://doi.org/10.1101/2021.12.05.471306
https://doi.org/10.1101/2021.12.05.471306
Autor:
Murat, Kilinc, Vineet, Arora, Thomas K, Creson, Camilo, Rojas, Aliza A, Le, Julie, Lauterborn, Brent, Wilkinson, Nicolas, Hartel, Nicholas, Graham, Adrian, Reich, Gemma, Gou, Yoichi, Araki, Àlex, Bayés, Marcelo, Coba, Gary, Lynch, Courtney A, Miller, Gavin, Rumbaugh
Publikováno v:
eLife. 11
Loss-of-function variants in