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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSA

Variant:p.G310delFs

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ARSA

NM_000487.6:p.G310delFs

hg38:chr22:50626203 GC>G

Associated Papers

Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2.

Cheng L et al.

Frontiers in Genetics, 2022

36035187 (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."