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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGL

Variant:p.T229_V231del3

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PYGL

NM_002863.5:p.T229_V231del3

hg38:chr14:50921034 GCACGGGGGT>G

Associated Papers

Type-VI glycogen storage disease with compound mutation of the PYGL gene.

Long Q et al.

Asian Journal of Surgery, 2024

38182518 (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."