Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.V367delFs
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FKTN

NM_001079802.2:p.V367delFs

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Malformations of cortical development: Fetal imaging and genetics.

Wang LL et al.

Molecular Genetics & Genomic Medicine, 2024

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.

Li M et al.

The Journal of Obstetrics and Gynaecology Research, 2022

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Saini N et al.

Prenatal Diagnosis, 2022

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xlsx › Supplementary_table_5
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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."