Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2B
Variant:p.R40H
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ACVR2B

NM_001106.4:p.R40H

Associated Papers

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.

Antony D et al.

Frontiers in Genetics, 2022

Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Gariballa N et al.

Frontiers in Molecular Biosciences, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O et al.

Plos One, 2014

25353622 (PubMed )
Supplement: pone.0110888.s004.xlsx › Table_S4

Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.

Ma L et al.

Cardiology in the Young, 2012

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

Kosaki R et al.

American Journal of Medical Genetics, 1999

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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."