Varaico: Literature-Extracted Genetic Variants

Gene:NLRP14
Variant:p.E21K
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NLRP14

NM_176822.4:p.E21K

Associated Papers

Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease.

Wang Y et al.

Genes & Diseases, 2024

38450100 (PubMed )
Supplement: mmc1.docx

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
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