Varaico: Literature-Extracted Genetic Variants

Gene:LRRC32
Variant:p.R414Q
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LRRC32

NM_001128922.2:p.R414Q

Associated Papers

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.

Li J et al.

Frontiers in Immunology, 2025

40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis

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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