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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN1

Variant:p.R1754H

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SPTBN1

NM_003128.3:p.R1754H

hg38:chr2:54649673 G>A

Associated Papers

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Saracino AM et al.

Archives of Dermatological Research, 2023

36912952 (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."