Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.M1T
Back to variants list

RPS19

NM_001022.4:p.M1T

Associated Papers

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B et al.

Genes, 2022

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Pilania RK et al.

Frontiers in Immunology, 2022

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 2021

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms.

Perez Botero J et al.

British Journal of Haematology, 2018

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 2014

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."