Database of Pathogenic Variants
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Gene Detail
Gene Symbol
NFIA
Gene:4774
HGNC:7784
Gene Name
nuclear factor I A
Chromosome
1
Cytogenetic Band
p31.3
RefSeq Accession
NM_005595
Associated Diseases
Brain malformations with or without urinary tract defects
Associated Variants
NM_001134673.3:c.1094delC