Varaico: Literature-Extracted Genetic Variants

Gene:PGAP1
Variant:p.V516_K517delFs
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PGAP1

NM_024989.4:p.V516_K517delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG67

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."