Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN2
Variant:p.E40V
Back to variants list

GEMIN2

NM_003616.3:p.E40V

Associated Papers

Whole exome sequencing identified three novel mutations of RTEL1 in Chinese patients with idiopathic pulmonary fibrosis.

Liu L et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

40424856 (PubMed )
Supplement: 1-s2.0-S0925443925002728-mmc1.docx

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
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."