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1 Ergebnisse
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Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.12.011. , 2022
Link:
https://hal.science/hal-03661178
RT Journal T1
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftunivpoitiers:oai:HAL:hal-03661178v1&Exemplar=1&LAN=DE A1 Küry, Sébastien A1 Ebstein, Frédéric A1 Mollé, Alice A1 Besnard, Thomas A1 Lee, Ming-Kang A1 Vignard, Virginie A1 Hery, Tiphaine A1 Nizon, Mathilde A1 Mancini, Grazia M.S A1 Giltay, Jacques A1 Cogné, Benjamin A1 Mcwalter, Kirsty A1 Deb, Wallid A1 Mor-Shaked, Hagar A1 Li, Hong A1 Schnur, Rhonda A1 Wentzensen, Ingrid A1 Denommé-Pichon, Anne-Sophie A1 Fourgeux, Cynthia A1 Verheijen, Frans A1 Faurie, Eva A1 Schot, Rachel A1 Stevens, Cathy A1 Smits, Daphne A1 Barr, Eileen A1 Sheffer, Ruth A1 Bernstein, Jonathan A1 Stimach, Chandler A1 Kovitch, Eliana A1 Shashi, Vandana A1 Schoch, Kelly A1 Smith, Whitney A1 van Jaarsveld, Richard A1 Hurst, Anna C.E A1 Smith, Kirstin A1 Baugh, Evan A1 Bohm, Suzanne A1 Vyhnálková, Emílie A1 Ryba, Lukáš A1 Delnatte, Capucine A1 Neira, Juanita A1 Bonneau, Dominique A1 Toutain, Annick A1 Rosenfeld, Jill A1 Audebert-Bellanger, Séverine A1 Gilbert-Dussardier, Brigitte A1 Odent, Sylvie A1 Laumonnier, Frédéric A1 Berger, Seth A1 Smith, Ann C.M A1 Bourdeaut, Franck A1 Stern, Marc-Henri A1 Redon, Richard A1 Krüger, Elke A1 Margueron, Raphaël A1 Bézieau, Stéphane A1 Poschmann, Jeremie A1 Isidor, Bertrand PB HAL CCSD; Elsevier (Cell Press) YR 2022 K1 BAP1 K1 BRCA1 K1 UPS K1 cancer K1 chromatin remodeling K1 deubiquitination K1 histone 2A K1 intellectual disability K1 neurodevelopment K1 tumor K1 ubiquitin K1 ubiquitin-proteasome system K1 [SDV]Life Sciences [q-bio] K1 [SDV.GEN]Life Sciences [q-bio]/Genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.12.011 LK http://dx.doi.org/https://hal.science/hal-03661178 DO https://hal.science/hal-03661178 SF ELIB - SuUB Bremen
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