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CRIPT exonic deletion and a novel missense mutation in a fe..:
Leduc, Magalie S.
;
Niu, Zhiyv
;
Bi, Weimin
...
American Journal of Medical Genetics Part A. 170 (2016) 8 - p. 2206-2211 , 2016
Link:
https://doi.org/10.1002/ajmg.a.37780
RT Journal T1 <Title>CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.37780&Exemplar=1&LAN=DE A1 Leduc, Magalie S. A1 Niu, Zhiyv A1 Bi, Weimin A1 Zhu, Wenmiao A1 Miloslavskaya, Irene A1 Chiang, Theodore A1 Streff, Haley A1 Seavitt, John R. A1 Murray, Stephen A. A1 Eng, Christine A1 Chan, Audrey A1 Yang, Yaping A1 Lalani, Seema R. PB Wiley YR 2016 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 170 IS 8 SP 2206 OP 2211 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.37780 DO https://doi.org/10.1002/ajmg.a.37780 SF ELIB - SuUB Bremen
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