Varaico: Literature-Extracted Genetic Variants

Gene:DZIP1L
Variant:p.K645E
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DZIP1L

NM_173543.3:p.K645E

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
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