Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OFD1

Variant:p.K37_T38Splc

Back to variants list

OFD1

NM_003611.3:p.K37_T38Splc

hg38:chrX:13736477 G>A

Associated Papers

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.

Best S et al.

Journal of Medical Genetics, 2022

35764379 (PubMed )

Supplement: jmedgenet-2022-108476supp001.pdf

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."