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Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
The American Journal of Human Genetics. 109 (2022) 2 - p. 361-372 , 2022
Link:
https://doi.org/10.1016/j.ajhg.2021.12.011
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=cr-10.1016_j.ajhg.2021.12.011&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 C. A1 Cogné, Benjamin A1 McWalter, Kirsty A1 Deb, Wallid A1 Mor-Shaked, Hagar A1 Li, Hong A1 Schnur, Rhonda E. A1 Wentzensen, Ingrid M. A1 Denommé-Pichon, Anne-Sophie A1 Fourgeux, Cynthia A1 Verheijen, Frans W. A1 Faurie, Eva A1 Schot, Rachel A1 Stevens, Cathy A. A1 Smits, Daphne J. A1 Barr, Eileen A1 Sheffer, Ruth A1 Bernstein, Jonathan A. A1 Stimach, Chandler L. A1 Kovitch, Eliana A1 Shashi, Vandana PB Elsevier BV YR 2022 SN 0002-9297 JF The American Journal of Human Genetics VO 109 IS 2 SP 361 OP 372 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2021.12.011 DO https://doi.org/10.1016/j.ajhg.2021.12.011 SF ELIB - SuUB Bremen
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