Disease: Distal Muscular Dystrophies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
0.010 GeneticVariation BEFREE Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. 28295036 2017