Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC11
Variant:p.Q606*
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TRAPPC11

NM_021942.6:p.Q606*

Associated Papers

Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.

Kiener S et al.

Genes, 2022

35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_2

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

Munot P et al.

Neuropathology and Applied Neurobiology, 2022

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