Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KITLG

Variant:p.L43_V44Splc

Back to variants list

KITLG

NM_000899.5:p.L43_V44Splc

hg38:chr12:88545751 C>T

Associated Papers

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Serey-Gaut M et al.

Human Genetics, 2025

39918572 (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."