Varaico: Literature-Extracted Genetic Variants

Gene:IMPA1
Variant:p.T95K
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IMPA1

NM_005536.4:p.T95K

Associated Papers

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59).

Pessoa ALS et al.

Brain Sciences, 2023

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.

Figueiredo T et al.

Molecular Psychiatry, 2021

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Figueiredo T et al.

Molecular Psychiatry, 2016

Defective craniofacial development and brain function in a mouse model for depletion of intracellular inositol synthesis.

Ohnishi T et al.

The Journal of Biological Chemistry, 2014

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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."