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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KITLG

Variant:p.R32H

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KITLG

NM_000899.5:p.R32H

hg38:chr12:88545786 C>T

Associated Papers

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

Ogawa Y et al.

Pigment Cell & Melanoma Research, 2017

28504826 (PubMed )

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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."