Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.A1157fs
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PCNT

NM_006031.6:p.A1157fs

Associated Papers

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH et al.

American Journal of Medical Genetics. Part A, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."