Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.L57S
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KIT

NM_000222.3:p.L57S

Associated Papers

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet1_AlphaMissense

Exon-1 skipping and intron-1 retaining by alternative splicing of the c-KIT gene encodes a novel splice variant in the skin of Merino sheep (Ovis aries).

Saravanaperumal SA et al.

Molecular Biology Reports, 2021

Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.

Lokhandwala PM et al.

Bmc Cancer, 2019

31277584 (PubMed )
Supplement: 12885_2019_5864_MOESM1_ESM.docx
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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."