Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPBL

Variant:p.E48*

Back to variants list

NIPBL

NM_133433.4:p.E48*

hg38:chr5:36955549 G>T

Associated Papers

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

J SK et al.

Cureus, 2023

36950004 (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."