Varaico: Literature-Extracted Genetic Variants

Gene:KITLG
Variant:p.V37G
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KITLG

NM_000899.5:p.V37G

Associated Papers

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

35543077 (PubMed )
Supplement: JDV-36-1606-s001.xlsx › Sheet1

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

Familial progressive hyper- and hypopigmentation caused by a novel mutation in site II of the KITLG gene.

Liu Z et al.

The Journal of Dermatology, 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

Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation.

Kato M et al.

The Journal of Dermatology, 2020

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

Sorlin A et al.

The Journal of Investigative Dermatology, 2017

Report of a child with sporadic familial progressive hyper- and hypopigmentation caused by a novel KITLG mutation.

Zhang J et al.

The British Journal of Dermatology, 2016

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG.

Cuell A et al.

Clinical and Experimental Dermatology, 2015

A novel KITLG mutation causes familial progressive hyperpigmentation and hypopigmentation with multiple café-au-lait macules.

Huang X et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."