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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAG5

Variant:p.Q59_E60Splc

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SPAG5

NM_006461.4:p.Q59_E60Splc

hg38:chr17:28598509 C>T

Associated Papers

Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Altarescu G et al.

Molecular Biology International, 2012

23320174 (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."