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Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

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Description publication published on 14 April 2022
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author: Poh San Lai  Vajira H W Dissanayake  Dineshani Hettiarachchi 

Publication date April 14, 2022
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