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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GHRHR

Variant:p.S238*

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GHRHR

NM_000823.4:p.S238*

hg38:chr7:30974100 C>G

Associated Papers

Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.

Guazzarotti L et al.

Endocrine Connections, 2025

40862376 (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."