Varaico: Literature-Extracted Genetic Variants

Gene:PERCC1
Variant:p.Y130*
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PERCC1

NM_001365310.2:p.Y130*

Associated Papers

Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis.

Banday AZ et al.

Journal of Human Genetics, 2026

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

PERCC1 -Related Congenital Enteropathy.

Kerle LS et al.

Clinical Genetics, 2025

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Marek-Yagel D et al.

Human Genetics, 2023

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