Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.I174M
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GPNMB

NM_002510.3:p.I174M

Associated Papers

Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.

Chrystal PW et al.

Molecules (basel, Switzerland), 2021

Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.

Rahman OU et al.

Genes & Genomics, 2021

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree.

Wang H et al.

Frontiers in Medicine, 2021

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