Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.A377T
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GBA1

NM_000157.4:p.A377T

Associated Papers

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.

Elstein D et al.

Journal of Clinical Medicine, 2024

38930117 (PubMed )
Supplement: jcm-13-03588-s001.zip › jcm-2997111-supplementary.pdf

Genetic characterization of the Albanian Gaucher disease patient population.

Cullufi P et al.

Jimd Reports, 2021

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