Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R4072C
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TNXB

NM_019105.8:p.R4072C

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

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Pénisson-Besnier I et al.

Neuromuscular Disorders : Nmd, 2013

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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."