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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUSB

Variant:p.P415Splc

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GUSB

NM_000181.4:p.P415Splc

hg38:chr7:65974447 G>A

Associated Papers

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.

Chkioua L et al.

Diagnostic Pathology, 2011

21521498 (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."