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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTF2

Variant:p.L421L

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TTF2

NM_003594.4:p.L421L

hg38:chr1:117075845 C>T

Associated Papers

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A et al.

Neuropathology and Applied Neurobiology, 2018

28489263 (PubMed )

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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."