Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.L2861_E2862insFs
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PCNT

NM_006031.6:p.L2861_E2862insFs

Associated Papers

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

Marchionni E et al.

Bone Reports, 2023

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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."