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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPT1

Variant:p.H158fs

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PPT1

NM_000310.4:p.H158fs

hg38:chr1:40089474 GTG>N

Associated Papers

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Delanne J et al.

Molecular Genetics and Metabolism Reports, 2021

34712575 (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."