Varaico: Literature-Extracted Genetic Variants

Gene:KITLG
Variant:p.N35I
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KITLG

NM_000899.5:p.N35I

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

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Broit N et al.

Pigment Cell & Melanoma Research, 2022

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

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."