Associated Papers
A Frameshift Mutation of NLRP12 in a Patient With Chronic Recurrent Multifocal Osteomyelitis.
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The Journal of Rheumatology, 2025
NLRP12 c.1382dup promotes the development of Crohn's disease through the ERK/NLRP3/ IL-1β pathway.
Huang Y et al.
Gene, 2024
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
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