Publications
2024
Josefin Johansson, Sarah Lideus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Goeran Anneren, Maria Wilbe, Marie-Louise Bondeson
(2024)
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
European Journal of Human Genetics, Vol. 32, p. 333-341
(Article in journal)
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2023
Teresa Mínguez‐Viñas, Varsha Prakash, Kaiqian Wang, Sarah Lindström, Serena Pozzi, Stuart A. Scott, Elizabeth Spiteri, David A. Stevenson, Euan A. Ashley, Cecilia Gunnarsson, Antonios Pantazis
(2023)
Two epilepsy‐associated variants in KCNA2 (KV1.2) at position H310 oppositely affect channel functional expression
Journal of Physiology, Vol. 601, p. 5367-5389
(Article in journal)
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