Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.R13*
Back to variants list

PAFAH1B1

NM_000430.4:p.R13*

Associated Papers

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

Simoes C et al.

Bmc Pediatrics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."