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A novel intronic PORCN variant creating an alternative spli..:
Yamoto, Kaori
;
Okada, Satoshi
;
Kato, Fumiko
...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1612-1617 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62649
RT Journal T1 <Title>A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62649&Exemplar=1&LAN=DE A1 Yamoto, Kaori A1 Okada, Satoshi A1 Kato, Fumiko A1 Fujisawa, Yasuko A1 Fukami, Maki A1 Saitsu, Hirotomo A1 Ogata, Tsutomu PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 5 SP 1612 OP 1617 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62649 DO https://doi.org/10.1002/ajmg.a.62649 SF ELIB - SuUB Bremen
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