Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.R251H
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TUBB1

NM_030773.4:p.R251H

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.

Yao Z et al.

Journal of Ovarian Research, 2022

Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Palma-Barqueros V et al.

Blood Advances, 2021

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S4.xlsx › Sheet1

TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.

Matsumura T et al.

British Journal of Haematology, 2019

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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."