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2 articles related to "Digenic Mutation"

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Articles

Hypothesis and Theory

Published on 26 Jan 2018

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

in Primary Immunodeficiencies

Rohan Ameratunga
See-Tarn Woon
Vanessa L. Bryant
Richard Steele
Charlotte Slade
Euphemia Yee Leung
Klaus Lehnert

Frontiers in Immunology

doi 10.3389/fimmu.2017.01965

9,987 views
45 citations

Original Research

Published on 20 Sep 2017

A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations

in Cardiovascular Genetics and Systems Medicine

Athar Khalil
Christiane Al-Haddad
Hadla Hariri
Kamel Shibbani
Fadi Bitar
Mazen Kurban
Georges Nemer
Mariam Arabi

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2017.00058

7,247 views
17 citations