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Uncovering the genetic basis of hyperphosphatasia with impa..:
Anam Nayab
;
Shagufta Andleeb
;
Shah Zeb
...
http://www.ejmanager.com/fulltextpdf.php?mno=137867. , 2023
Link:
https://doi.org/10.24911/JBCGenetics/183-1673224261
RT Journal T1
Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:b7f46a48c0524dd1b05fa88a0a857f32&Exemplar=1&LAN=DE A1 Anam Nayab A1 Shagufta Andleeb A1 Shah Zeb A1 Hafiza Yasmin Manzoor A1 Zamrud Zehri A1 Arif Mahmood A1 Hammal Khan A1 Muhammad Umair A1 Ahmed Waqas PB Discover STM Publishing Ltd YR 2023 K1 gpi K1 wes K1 missense variant K1 pigo K1 id K1 novel variant K1 Genetics K1 QH426-470 JF http://www.ejmanager.com/fulltextpdf.php?mno=137867 LK http://dx.doi.org/https://doi.org/10.24911/JBCGenetics/183-1673224261 DO https://doi.org/10.24911/JBCGenetics/183-1673224261 SF ELIB - SuUB Bremen
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