Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K233del1
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GBA1

NM_000157.4:p.K233del1

Associated Papers

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Mora-Martinez S et al.

Frontiers in Pediatrics, 2024

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