Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.S319R
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RUNX1T1

NM_175634.3:p.S319R

Associated Papers

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1

Driver Mutations in Normal Airway Epithelium Elucidate Spatiotemporal Resolution of Lung Cancer.

Kadara H et al.

American Journal of Respiratory and Critical Care Medicine, 2019

30896962 (PubMed )
Supplement: kadara_supplementary_tables_e4_and_e5.xlsx › E4_MutationCalls
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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."