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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTHLH

Variant:p.K129_P130insFs

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PTHLH

NM_198965.2:p.K129_P130insFs

hg38:chr12:27963485 C>CT

Associated Papers

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

Martín MA et al.

Annals of Neurology, 2001

11706962 (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."