Varaico: Literature-Extracted Genetic Variants

Gene:CD9
Variant:p.R140Q
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CD9

NM_001769.4:p.R140Q

Associated Papers

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.

Brodie SA et al.

Cold Spring Harbor Molecular Case Studies, 2021

34162668 (PubMed )
Supplement: supp_mcs.a006015_Supplemental_TableS1-extended-variants.xlsx › Table_S2

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

33851776 (PubMed )
Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.xlsx › Sheet1

Ordering of mutations in acute myeloid leukemia with partial tandem duplication of MLL (MLL-PTD).

Sun QY et al.

Leukemia, 2017

27389053 (PubMed )
Supplement: leu2016160x1.doc
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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."