Title : Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.

Pub. Date : 2016

PMID : 28868155






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 We identified de novo missense variants that affect the GDP/GTP-binding site of ARF1 in three unrelated patients. Guanosine Diphosphate ADP ribosylation factor 1 Homo sapiens
2 Corresponding functional analysis suggests ARF1 GDP/GTP-activation is affected by the specific missense mutations associated with heterotopia. Guanosine Diphosphate ADP ribosylation factor 1 Homo sapiens