Varaico: Literature-Extracted Genetic Variants

Gene:INTS1
Variant:p.C516S
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INTS1

NM_001080453.3:p.C516S

Associated Papers

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.

Seaby EG et al.

Healthcare (basel, Switzerland), 2023

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
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