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A novel synonymous variant in exon 1 of GNAS gene results i..:
Andreea Apetrei
;
Arnaud Molin
;
Nicolas Gruchy
...
http://www.sciencedirect.com/science/article/pii/S2352187221003284. , 2021
Link:
https://doi.org/10.1016/j.bonr.2021.101073
RT Journal T1
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:06afffac08b845edbeaae027d8bd8669&Exemplar=1&LAN=DE A1 Andreea Apetrei A1 Arnaud Molin A1 Nicolas Gruchy A1 Manon Godin A1 Claire Bracquemart A1 Antoine Resbeut A1 Gaëlle Rey A1 Gwenaël Nadeau A1 Nicolas Richard PB Elsevier YR 2021 K1 GNAS K1 Synonymous K1 PHP1A K1 PPHP K1 IPPSD2 K1 Pseudohypoparathyroidism K1 Diseases of the musculoskeletal system K1 RC925-935 JF http://www.sciencedirect.com/science/article/pii/S2352187221003284 LK http://dx.doi.org/https://doi.org/10.1016/j.bonr.2021.101073 DO https://doi.org/10.1016/j.bonr.2021.101073 SF ELIB - SuUB Bremen
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