Varaico: Literature-Extracted Genetic Variants

Gene:CARHSP1
Variant:p.V62I
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CARHSP1

NM_014316.4:p.V62I

Associated Papers

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.

van de Beek I et al.

Human Molecular Genetics, 2023

36440963 (PubMed )
Supplement: supplemental_tables_final_ddac288.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."