Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.R43Q
Back to variants list

MASTL

NM_001172303.3:p.R43Q

Associated Papers

Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient.

Robb TJ et al.

Cancer Research Communications, 2023

36968225 (PubMed )
Supplement: crc-22-0101-s01.xlsx › S10_-_Variants_in_biopsy_1

Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.

Vyas H et al.

Platelets, 2022

Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study.

Zidan NI et al.

Platelets, 2021

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Wahlster L et al.

The Journal of Experimental Medicine, 2021

Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected.

Ferrari S et al.

Platelets, 2017

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T et al.

American Journal of Human Genetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."