Varaico: Literature-Extracted Genetic Variants

Gene:KITLG
Variant:p.R32C
Back to variants list

KITLG

NM_000899.5:p.R32C

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Serey-Gaut M et al.

Human Genetics, 2025

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Vona B et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.

Wang J et al.

Bmc Medical Genomics, 2021

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

Ogawa Y et al.

Pigment Cell & Melanoma Research, 2017

SNiPORK - a microarray of SNPs in candidate genes potentially associated with pork yield and quality - development and validation in commercial breeds.

Kaminski S et al.

Animal Biotechnology, 2008

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."