Varaico: Literature-Extracted Genetic Variants

Gene:PDE1B
Variant:p.P9_L12delFs
Back to variants list

PDE1B

NM_000924.4:p.P9_L12delFs

Associated Papers

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Poleg T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40492975 (PubMed )
Supplement: MDS-40-1874-s001.xlsx › gnomAD_v4.1.0_ENSG00000123360_2
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."