Varaico: Literature-Extracted Genetic Variants

Gene:SHOC2
Variant:p.N480T
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SHOC2

NM_007373.4:p.N480T

Associated Papers

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
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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."