Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.Q39*
Back to variants list

INPP4A

NM_001134225.2:p.Q39*

Associated Papers

Attenuated cerebellar phenotypes in Inpp4a truncation mutants with preserved phosphatase activity.

Tran DM et al.

Disease Models & Mechanisms, 2023

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.

Hecher L et al.

Neurogenetics, 2023

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.

Banihashemi S et al.

European Journal of Medical Genetics, 2020

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."