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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRCAP

Variant:p.C2429fs

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SRCAP

NM_006662.3:p.C2429fs

hg38:chr16:30737325 TGC>N

Associated Papers

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].

Makretskaya NA et al.

Problemy Endokrinologii, 2025

40734301 (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."