Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.D98Splc
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PQBP1

NM_001032382.2:p.D98Splc

Associated Papers

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D et al.

Human Mutation, 2015

26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
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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."