Publications:

c-Kit M541L variant is related to ineffective hemopoiesis predisposing to clonal evolution in 3D in vitro biomimetic co-culture model of bone marrow niche.

Heliyon

Manzo, Paola P; Scala, Pasqualina P; Giudice, Valentina V; Gorrese, Marisa M; Bertolini, Angela A; Morini, Denise D; D'Alto, Francesca F; Pepe, Rita R; Pedicini, Antonio A; Izzo, Barbara B; Verdesca, Francesco F; Langella, Maddalena M; Serio, Bianca B; Della Porta, Giovanna G; Selleri, Carmine C

Publication Date: 2022-12

Variant appearance in text: KIT: 2326G>A

PubMed Link: 36478848

Variant Present in the following documents:

• main.pdf

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A novel c.2326G>A KIT pathogenic variant in piebaldism.

American Journal Of Translational Research

Shi, Weili W; Yang, Ke K; Sun, Yafei Y; Chu, Yan Y; Zhang, Yuwei Y; Hao, Bingtao B; Liao, Shixiu S

Publication Date: 2020

Variant appearance in text: KIT: 2326G>A; Val776Met

PubMed Link: 33194047

Variant Present in the following documents:

• Main text

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: V776M

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page