Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.R863Q
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IQSEC2

NM_001111125.3:p.R863Q

Associated Papers

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.

Shoubridge C et al.

Human Mutation, 2019

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

Kalscheuer VM et al.

Frontiers in Molecular Neuroscience, 2015

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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."