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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 <Title>Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivrennes1hal: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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