Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.L177F
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TARDBP

NM_007375.4:p.L177F

Associated Papers

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

Xing Y et al.

Orphanet Journal of Rare Diseases, 2025

40188109 (PubMed )
Supplement: 13023_2025_3696_MOESM2_ESM.xlsx › Sheet1

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
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