Varaico: Literature-Extracted Genetic Variants

Gene:CPLX1
Variant:p.R48C
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CPLX1

NM_006651.4:p.R48C

Associated Papers

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

Complexin and Ca2+ stimulate SNARE-mediated membrane fusion.

Yoon TY et al.

Nature Structural & Molecular Biology, 2008

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