Associated Papers
Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.
Karolak JA et al.
Peerj, 2020
32328353 (PubMed )
Supplement: peerj-08-8982-s002.xls › ES_Variants_
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
Yehia L et al.
Npj Genomic Medicine, 2017
29263846 (PubMed )
Supplement: 41525_2017_39_MOESM1_ESM.pdf
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