Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.R386W
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MMAA

NM_172250.3:p.R386W

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry.

Bassani-Sternberg M et al.

Nature Communications, 2016

27869121 (PubMed )
Supplement: ncomms13404-s6.xlsx › Supplementary_Data_5
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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."