Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.N47S
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ITPR1

NM_001378452.1:p.N47S

Associated Papers

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

Manjunath U et al.

Frontiers in Neuroscience, 2025

41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2

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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