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
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.
De Felipe B et al.
International Journal of Neonatal Screening, 2025
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels
The rs17084733 variant in the KIT 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility.
Ravegnini G et al.
Epigenetics, 2019
Mutation in the first Ig-like domain of Kit leads to JAK2 activation and myeloproliferation in mice.
Huang Z et al.
The American Journal of Pathology, 2014
C-kit gene mutation: common and widely distributed in intracranial germinomas.
Kamakura Y et al.
Journal of Neurosurgery, 2006
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