Varaico: Literature-Extracted Genetic Variants

Gene:KLF13
Variant:p.P163S
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KLF13

NM_015995.4:p.P163S

Associated Papers

KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.

Guo YH et al.

Journal of the American Heart Association, 2022

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Zhou W et al.

Jbmr Plus, 2022

35991532 (PubMed )
Supplement: JBM4-6-e10659-s002.xlsx › Supl1.Dominant_model

A novel KLF13 mutation underlying congenital patent ductus arteriosus and ventricular septal defect, as well as bicuspid aortic valve.

Abhinav P et al.

Experimental and Therapeutic Medicine, 2022

KLF13 loss-of-function variation contributes to familial congenital heart defects.

Wang SS et al.

European Review for Medical and Pharmacological Sciences, 2020

Identification and analysis of KLF13 variants in patients with congenital heart disease.

Li W et al.

Bmc Medical Genetics, 2020

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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."