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1 Ergebnisse
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Ectodysplasin pathogenic variants affecting the furin‐cleav..:
Chaudhary, Ajay Kumar
;
Gholse, Aishwarya
;
Nagarajaram, Hampapathalu Adimurthy
...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 788-805 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62579
RT Journal T1
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62579&Exemplar=1&LAN=DE A1 Chaudhary, Ajay Kumar A1 Gholse, Aishwarya A1 Nagarajaram, Hampapathalu Adimurthy A1 Dalal, Ashwin Bhikaji A1 Gupta, Neerja A1 Dutta, Atanu Kumar A1 Danda, Sumita A1 Gupta, Rekha A1 Sankar, Hariharan V. A1 Bhavani, Gandham SriLakshmi A1 Girisha, Katta M. A1 Phadke, Shubha Rao A1 Ranganath, Prajnya A1 Bashyam, Murali Dharan PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 3 SP 788 OP 805 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62579 DO https://doi.org/10.1002/ajmg.a.62579 SF ELIB - SuUB Bremen
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