Varaico: Literature-Extracted Genetic Variants

Gene:MACROH2A1
Variant:p.R27Q
Back to variants list

MACROH2A1

NM_138610.3:p.R27Q

Associated Papers

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S3

RNA splicing factors as oncoproteins and tumour suppressors.

Dvinge H et al.

Nature Reviews. Cancer, 2016

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."