Varaico: Literature-Extracted Genetic Variants

Gene:S1PR2
Variant:p.R329C
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S1PR2

NM_004230.4:p.R329C

Associated Papers

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.

Tlili A et al.

Human Genomics, 2024

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

Loss of signalling via Gα13 in germinal centre B-cell-derived lymphoma.

Muppidi JR et al.

Nature, 2014

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