Varaico: Literature-Extracted Genetic Variants

Gene:FBLN2
Variant:p.E123K
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FBLN2

NM_001004019.2:p.E123K

Associated Papers

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

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

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All
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