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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPNMB

Variant:p.C323*

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GPNMB

NM_002510.3:p.C323*

hg38:chr7:23260724 T>A

Associated Papers

Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review.

Untaaveesup S et al.

Acta Dermato-venereologica, 2025

40792575 (PubMed )

Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns.

Qin W et al.

Journal of Dermatological Science, 2021

34551863 (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."