Varaico: Literature-Extracted Genetic Variants

Gene:CSMD3
Variant:p.N1964S
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CSMD3

NM_198123.2:p.N1964S

Associated Papers

Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.

Bravo-Perez C et al.

The Journal of Clinical Investigation, 2025

40309770 (PubMed )
Supplement: jci-135-184431-s106.xlsx › Table_S5

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › S462

A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.

Tyran M et al.

Cancers, 2019

31086113 (PubMed )
Supplement: cancers-11-00665-s001.zip › Supplementary › Table_S3.xlsx › Suppl_table_3

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
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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."