Varaico: Literature-Extracted Genetic Variants

Gene:GPC1
Variant:p.V317M
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GPC1

NM_002081.3:p.V317M

Associated Papers

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

Takada S et al.

The Journal of Allergy and Clinical Immunology. Global, 2025

40687947 (PubMed )
Supplement: mmc1.docx
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