Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ2
Variant:p.N538K
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SYNJ2

NM_003898.4:p.N538K

Associated Papers

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice.

Martelletti E et al.

Frontiers in Cellular Neuroscience, 2020

A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

Manji SS et al.

Plos One, 2011

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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."