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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNFT2

Variant:p.H129Q

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RNFT2

NM_001382266.1:p.H129Q

hg38:chr12:116750144 C>G

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )

Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

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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."