Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAP1S

Variant:p.E55fs

Back to variants list

MAP1S

NM_018174.6:p.E55fs

hg38:chr19:17720980 GAA>N

Associated Papers

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

MacKay CI et al.

Clinical Genetics, 2021

33047306 (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."