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1 Ergebnisse
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CRYAB stop-loss variant causes rare syndromic dilated cardi..:
Ha, Changhee
;
Kim, Darae
;
Bak, Minjung
...
Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/s10038-023-01218-1
RT Journal T1
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s10038-023-01218-1&Exemplar=1&LAN=DE A1 Ha, Changhee A1 Kim, Darae A1 Bak, Minjung A1 Park, Jong-Ho A1 Kim, Young-gon A1 Jang, Ja-Hyun A1 Kim, Jong-Won A1 Choi, Jin-Oh A1 Jang, Mi-Ae PB Springer Science and Business Media LLC YR 2024 SN 1434-5161 SN 1435-232X JF Journal of Human Genetics LK http://dx.doi.org/https://doi.org/10.1038/s10038-023-01218-1 DO https://doi.org/10.1038/s10038-023-01218-1 SF ELIB - SuUB Bremen
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