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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBM

Variant:p.R31Splc

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HBM

NM_001003938.4:p.R31Splc

hg38:chr16:166232 C>T

Associated Papers

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.

Boudin E et al.

Bone, 2013

23563356 (PubMed )

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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."