Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.E204fs
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THPO

NM_000460.4:p.E204fs

Associated Papers

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.

Capaci V et al.

Haematologica, 2023

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.

Cornish N et al.

Blood Advances, 2020

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