Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S469F
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UNC13C

NM_001080534.3:p.S469F

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Loss of GalNAc-T14 links O-glycosylation defects to alterations in B cell homing in IgA nephropathy.

Prakash S et al.

The Journal of Clinical Investigation, 2025

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