Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL2
Variant:p.R59Q
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RHBDL2

NM_017821.5:p.R59Q

Associated Papers

Plasma proteomic associations with genetics and health in the UK Biobank.

Sun BB et al.

Nature, 2023

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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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."