All Relations between Neurodevelopmental Disorders and ufc1

Publication Sentence Publish Date Extraction Date Species
Ye Han, Yangyang Ge, Haoran Liu, Liying Liu, Lina Xie, Xiaoli Chen, Qian Che. A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder. Genes & genomics. 2024-07-30. PMID:39078589. a novel compound heterozygous mutation of ufc1 in a patient with neurodevelopmental disorder. 2024-07-30 2024-08-02 Not clear
Sorina M Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, Tobias Iff, Thomas Schmitt-Mechelke, Karoline Otten, Annette Hackenberg, Marie-Claude Addor, Andrea Klein, Silvia Azzarello-Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauc. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics : EJHG. vol 27. issue 3. 2019-05-20. PMID:30552426. we further support candidacy for neurodevelopmental disorders of four previously described genes (pik3ap1, gtf3c3, ufc1, and wrap53), three of which also followed a recessive inheritance pattern. 2019-05-20 2023-08-13 Not clear