Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.F369insFs
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FKTN

NM_001079802.2:p.F369insFs

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Matsumoto H et al.

Neuromuscular Disorders : Nmd, 2005

Glycosylation in congenital muscular dystrophies.

Endo T et al.

Biological & Pharmaceutical Bulletin, 2003

[Finding of O-mannosyl glycan in mammals and congenital muscular dystrophies due to glycosylation defects].

Endo T

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2003

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K et al.

Human Molecular Genetics, 2003

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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."