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Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
Italian Journal of Pediatrics Open Access 08 December 2022
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References
Original article
Zhang, S. et al. Base-specific mutational intolerance near splice-sites clarifies role of non-essential splice nucleotides. Genome Res. https://doi.org/10.1101/gr.231902.117 (2018)
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Furlong, R. Refining the splice region. Nat Rev Genet 19, 470–471 (2018). https://doi.org/10.1038/s41576-018-0028-8
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DOI: https://doi.org/10.1038/s41576-018-0028-8
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Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
Italian Journal of Pediatrics (2022)