Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.Q167fs
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EPCAM

NM_002354.3:p.Q167fs

Associated Papers

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.

Baz DS et al.

Frontiers in Pediatrics, 2024

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia.

AlMahamed S et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.

Alfares AA

International Journal of Health Sciences, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."