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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALNS

Variant:p.T128_L138del11

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GALNS

NM_001323543.2:p.T128_L138del11

hg38:chr16:88832030 CGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGT>C

Associated Papers

Delayed diagnosis of mild mucopolysaccharidosis type IVA.

Yi M et al.

Bmc Medical Genomics, 2024

38831290 (PubMed )

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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."