Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.W55fs
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PAFAH1B1

NM_000430.4:p.W55fs

Associated Papers

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.

Feng WX et al.

Seizure, 2024

Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer.

Wong K et al.

Genome Biology, 2023

37635261 (PubMed )
Supplement: 13059_2023_3026_MOESM3_ESM.xlsx › Table_S2

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.

Zacher P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33911214 (PubMed )
Supplement: 41436_2021_1153_MOESM2_ESM.xlsx › Gen_DG
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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."