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1 Ergebnisse
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Variant c.2158-2A>G in MANBA is an important and frequent c..:
Dana Safka Brozkova
;
Lukas Varga
;
Anna Uhrova Meszarosova
...
http://link.springer.com/article/10.1186/s13023-020-01508-3. , 2020
Link:
https://doi.org/10.1186/s13023-020-01508-3
RT Journal T1
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:da7c7f77811c48b19db2cb2862fd08af&Exemplar=1&LAN=DE A1 Dana Safka Brozkova A1 Lukas Varga A1 Anna Uhrova Meszarosova A1 Zuzana Slobodova A1 Martina Skopkova A1 Andrea Soltysova A1 Andrej Ficek A1 Jan Jencik A1 Jana Lastuvkova A1 Daniela Gasperikova A1 Pavel Seeman PB BMC YR 2020 K1 Beta-mannosidosis K1 Ethnic-specific variant K1 Hearing loss K1 Roma K1 Mental retardation K1 Medicine K1 R JF http://link.springer.com/article/10.1186/s13023-020-01508-3 LK http://dx.doi.org/https://doi.org/10.1186/s13023-020-01508-3 DO https://doi.org/10.1186/s13023-020-01508-3 SF ELIB - SuUB Bremen
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