Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A143_G144ins1
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GLA

NM_000169.3:p.A143_G144ins1

Associated Papers

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

Jinnah HA et al.

Mutation Research, 2000

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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."