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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LARP7

Variant:p.K202fs

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LARP7

NM_016648.4:p.K202fs

hg38:chr4:112647085 A>AN

Associated Papers

Alazami syndrome with a single LARP7 variant and concurrent osteo-oto-hepato-enteric syndrome: A case of complex genetic interplay.

Thouqan A et al.

Radiology Case Reports, 2025

40129845 (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."