TMEM132E gene
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Introduction
17q12
Pathology
- TMEM132E gene is identified in a region of chromosome 17 involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene & contiguous genes lying in its flanking regions, is observed in one patient with NF1 & 17q11.2 microdeletion syndrome (NF1 microdeletion syndrome)