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A Founder Intronic Variant in P3H1 Likely Results in Aberra..:
Piranit Nik Kantaputra
;
Salita Angkurawaranon
;
Worrachet Intachai
...
Human Genomics and Genetic Diseases. , 2023
Link:
https://doi.org/10.3390/genes14020322
RT Journal T1
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII
UL https://suche.suub.uni-bremen.de/peid=base-ftmdpi:oai:mdpi.com:_2073-4425_14_2_322_&Exemplar=1&LAN=DE A1 Piranit Nik Kantaputra A1 Salita Angkurawaranon A1 Worrachet Intachai A1 Chumpol Ngamphiw A1 Bjorn Olsen A1 Sissades Tongsima A1 Timothy C. Cox A1 James R. Ketudat Cairns PB Multidisciplinary Digital Publishing Institute YR 2023 K1 osteogenesis imperfecta type VIII K1 P3H1 variant K1 popcorn calcification K1 brittle bone disease K1 prolyl 3-hydroxylation complex K1 Karen tribe JF Human Genomics and Genetic Diseases LK http://dx.doi.org/https://doi.org/10.3390/genes14020322 DO https://doi.org/10.3390/genes14020322 SF ELIB - SuUB Bremen
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