Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.E2609Splc
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TNXB

NM_001365276.2:p.E2609Splc

Associated Papers

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.

Brisset M et al.

Neuromuscular Disorders : Nmd, 2020

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L et al.

Genes, 2019

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

Rymen D et al.

Genes, 2019

31731524 (PubMed )
Supplement: genes-10-00843-s001.zip › Supplementary_data.pdf
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