Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS5
Variant:p.R47C
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TMPRSS5

NM_030770.4:p.R47C

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Jallades L et al.

Haematologica, 2017

28751561 (PubMed )
Supplement: 2016.160192.JALLADES_SUPPL.pdf
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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."