Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.P48S
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PPT1

NM_000310.4:p.P48S

Associated Papers

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.

Haarman AEG et al.

Ophthalmology Science, 2023

37250922 (PubMed )
Supplement: mmc7.pdf

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
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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."