Varaico: Literature-Extracted Genetic Variants

Gene:KITLG
Variant:p.W215*
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KITLG

NM_000899.5:p.W215*

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
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