Varaico: Literature-Extracted Genetic Variants

Gene:PARN
Variant:p.I239V
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PARN

NM_002582.4:p.I239V

Associated Papers

Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.

Nurelegne HT et al.

Molecular Genetics & Genomic Medicine, 2025

40438983 (PubMed )
Supplement: MGG3-13-e70107-s003.xlsx › Sheet1

Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.

Phan ANL et al.

Molecular Genetics & Genomic Medicine, 2020

32154999 (PubMed )
Supplement: MGG3-8-e1216-s001.docx
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