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Null phenotype of neurofibromatosis type 1 in a carrier of ..:
Kluwe, Lan
;
Friedrich, Reinhard E
;
Farschtschi, Said C
...
https://databases.lovd.nl/shared/variants/0000602980. , 2022
Link:
https://doi.org/10.18725/OPARU-42172
RT Journal T1
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
UL https://suche.suub.uni-bremen.de/peid=base-ftunivulm:oai:oparu.uni-ulm.de:123456789_42248&Exemplar=1&LAN=DE A1 Kluwe, Lan A1 Friedrich, Reinhard E A1 Farschtschi, Said C A1 Hagel, Christian A1 Kehrer‐Sawatzki, Hildegard A1 Mautner, Victor‐Felix PB Universität Ulm YR 2022 K1 NF1 deletion K1 DDC 570 / Life sciences K1 Lipoma K1 Neurofibromatosis 1 K1 Pheochromocytoma K1 Homologous recombination K1 Mosaicism K1 Lipom K1 Neurofibromatose K1 Phäochromozytom JF https://databases.lovd.nl/shared/variants/0000602980 LK http://dx.doi.org/https://doi.org/10.18725/OPARU-42172 DO https://doi.org/10.18725/OPARU-42172 SF ELIB - SuUB Bremen
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