Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EGFL8

Variant:p.H104Y

Back to variants list

EGFL8

NM_030652.4:p.H104Y

hg38:chr6:32166786 C>T

Associated Papers

A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.

Zhang K et al.

Biochemical Genetics, 2025

40762868 (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."