Associated Papers
Hereditary pancreatitis with a N29I mutation in the PRSS1 (Trypsinogen) gene: A case report from India.
Rodrigues M et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK9_het
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P3-dominant
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
Saadi SM et al.
Genes, 2023
37510308 (PubMed )
Supplement: genes-14-01404-s001.zip › Table_S1.xlsx › Family_C__BICD2_
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.
Wu H et al.
Human Mutation, 2017
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Witt H et al.
Nature Genetics, 2013
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