Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.W546*
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IQSEC2

NM_001111125.3:p.W546*

Associated Papers

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Ghasemi MR et al.

Bmc Medical Genomics, 2024

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6
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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."