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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RFX7

Variant:p.S918fs

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RFX7

NM_022841.7:p.S918fs

hg38:chr15:56094976 TGA>N

Associated Papers

Expanding the clinical phenotype and variant spectrum associated with RFX7.

Sisroe T et al.

American Journal of Medical Genetics. Part A, 2024

39007708 (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."