Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.Y290fs
Back to variants list

PAFAH1B1

NM_000430.4:p.Y290fs

Associated Papers

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Velasco HM et al.

European Journal of Human Genetics : Ejhg, 2024

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."