A novel long-range deletion spanning STX16 and NPEPL1...

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A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B

Yang, Yi, Chu, Xueying, Nie, Min, Song, An, Jiang, Yan, Li, Mei, Xia, Weibo, Xing, Xiaoping, Wang, Ou
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Journal:
Endocrine
DOI:
10.1007/s12020-020-02304-6
Date:
April, 2020
File:
PDF, 1.02 MB
2020
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