Varaico: Literature-Extracted Genetic Variants

Gene:IMPA1
Variant:p.S165fs
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IMPA1

NM_005536.4:p.S165fs

Associated Papers

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

Figueiredo T et al.

Molecular Psychiatry, 2016

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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."