Varaico: Literature-Extracted Genetic Variants

Gene:GRM7
Variant:p.Q173_I174Splc
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GRM7

NM_000844.4:p.Q173_I174Splc

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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