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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAGLU

Variant:p.A72_G79ins2

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NAGLU

NM_000263.4:p.A72_G79ins2

hg38:chr17:42536480 G>GGCGGCGCGGCGCGCGTGCGGGTGC

Associated Papers

A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.

Vahedi-Larijani L et al.

Iranian Journal of Pathology, 2026

41624738 (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."