Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.M132fs
Back to variants list

PCNT

NM_006031.6:p.M132fs

Associated Papers

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Di Stazio M et al.

Genes, 2023

36833176 (PubMed )
Supplement: genes-14-00250-s001.zip › genes-2140600-supplementary.xlsx › Table_S2_oligonucleotides
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."