Varaico: Literature-Extracted Genetic Variants

Gene:CSMD1
Variant:p.W1348C
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CSMD1

NM_033225.6:p.W1348C

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

D'Alterio G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4

Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma.

Bitzer M et al.

Npj Precision Oncology, 2021

34480077 (PubMed )
Supplement: 41698_2021_220_MOESM1_ESM.pdf
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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."