Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing

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Figure 5.
Figure 5.

FGFR3 variants associated with germline disorders and/or tumors. Shown are FGFR3 protein domains and associated variants documented to cause germline disorders (color-coded like the respective disorder) according to the HGMD database and the variants with the most counts in the COSMIC database. Variants captured with our DS approach are highlighted in bold. (IgI-III) Immunoglobulin-like domain I-III, (TM) transmembrane domain, and (TK) tyrosine kinase domain.

This Article

  1. Published in Advance February 24, 2022, doi: 10.1101/gr.275695.121 Genome Res. 32: 499-511

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