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Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.Convert your favorite protein modeling program into a mutation predictor: "MODICT"Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins.Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.I-PV: a CIRCOS module for interactive protein sequence visualization.Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Ibrahim Tanyalcin
@ast
Ibrahim Tanyalcin
@en
Ibrahim Tanyalcin
@es
Ibrahim Tanyalcin
@nl
type
label
Ibrahim Tanyalcin
@ast
Ibrahim Tanyalcin
@en
Ibrahim Tanyalcin
@es
Ibrahim Tanyalcin
@nl
prefLabel
Ibrahim Tanyalcin
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Ibrahim Tanyalcin
@en
Ibrahim Tanyalcin
@es
Ibrahim Tanyalcin
@nl
P106
P31
P496
0000-0003-0327-5096