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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IQSEC1

Variant:p.E953K

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IQSEC1

NM_001134382.3:p.E953K

hg38:chr3:12901471 C>T

Associated Papers

IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.

Shoubridge C et al.

Clinical Genetics, 2022

35347702 (PubMed )

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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."