Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAFAH1B1

Variant:p.E138K

Back to variants list

PAFAH1B1

NM_000430.4:p.E138K

hg38:chr17:2670175 G>A

Associated Papers

Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification.

Shi CH et al.

Brain & Development, 2019

30100227 (PubMed )

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."