Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V334_P338del5
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GBA1

NM_000157.4:p.V334_P338del5

Associated Papers

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.

Gleason AM et al.

American Journal of Medical Genetics. Part A, 2023

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