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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause..:
McEntagart, Meriel
;
Williamson, Kathleen A.
;
Rainger, Jacqueline K.
...
The American Journal of Human Genetics. 98 (2016) 5 - p. 981-992 , 2016
Link:
https://doi.org/10.1016/j.ajhg.2016.03.018
RT Journal T1
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2016.03.018&Exemplar=1&LAN=DE A1 McEntagart, Meriel A1 Williamson, Kathleen A. A1 Rainger, Jacqueline K. A1 Wheeler, Ann A1 Seawright, Anne A1 De Baere, Elfride A1 Verdin, Hannah A1 Bergendahl, L. Therese A1 Quigley, Alan A1 Rainger, Joe A1 Dixit, Abhijit A1 Sarkar, Ajoy A1 López Laso, Eduardo A1 Sanchez-Carpintero, Rocio A1 Barrio, Jesus A1 Bitoun, Pierre A1 Prescott, Trine A1 Riise, Ruth A1 McKee, Shane A1 Cook, Jackie A1 McKie, Lisa A1 Ceulemans, Berten A1 Meire, Françoise A1 Temple, I. Karen A1 Prieur, Fabienne A1 Williams, Jonathan A1 Clouston, Penny A1 Németh, Andrea H. A1 Banka, Siddharth A1 Bengani, Hemant PB Elsevier BV YR 2016 SN 0002-9297 JF The American Journal of Human Genetics VO 98 IS 5 SP 981 OP 992 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2016.03.018 DO https://doi.org/10.1016/j.ajhg.2016.03.018 SF ELIB - SuUB Bremen
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