Varaico: Literature-Extracted Genetic Variants

Gene:ITPR3
Variant:p.Q1492L
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ITPR3

NM_002224.4:p.Q1492L

Associated Papers

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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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."