Varaico: Literature-Extracted Genetic Variants

Gene:KITLG
Variant:p.L104V
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KITLG

NM_000899.5:p.L104V

Associated Papers

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).

Gorenjak M et al.

Molecular Genetics & Genomic Medicine, 2021

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

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

Sorlin A et al.

The Journal of Investigative Dermatology, 2017

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C et al.

American Journal of Human Genetics, 2015

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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."