Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.R1417Q
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MYH9

NM_002473.6:p.R1417Q

Associated Papers

Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.

Casas-Mao D et al.

The Journal of Biological Chemistry, 2024

38042490 (PubMed )
Supplement: mmc1.docx

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 2018

Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype.

Bujko M et al.

World Neurosurgery, 2017

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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."