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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPCAM

Variant:p.C118Y

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EPCAM

NM_002354.3:p.C118Y

hg38:chr2:47373976 G>A

Associated Papers

Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.

Wang SN et al.

Translational Pediatrics, 2024

39263299 (PubMed )

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