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Table 1 The potential gene variations related to microtia

From: Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review

Gene

Variation information

PRDM16

Chr1:3328445 c.1684G > A p.V562I

FAT4

Chr4:126412906 c.14935G > A p.A4979T rs17009858

POLR1C

Chr6:43487568 c.374G > A p.R125Q

PLEC

Chr8:144993545 c.10,444 C > T p.R3482C rs370181826

MED12

ChrX:70,340,926 c.659G > A p.G220E

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BMC Ophthalmology

ISSN: 1471-2415

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