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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRP72

Variant:p.I481_T483delFs

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SRP72

NM_006947.4:p.I481_T483delFs

hg38:chr4:56490584 ATTCACAC>A

Associated Papers

A 14-Year-Old Male Patient With Bone Marrow Failure Syndrome, Without Deafness, Caused by a Novel SRP72 Mutation Inherited From His Father: A Case Report.

Sun D et al.

Cureus, 2025

40922878 (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."