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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NTRK1

Variant:p.E548delFs

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NTRK1

NM_002529.4:p.E548delFs

hg38:chr1:156876407 AG>A

Associated Papers

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.

Yuan JH et al.

Frontiers in Neurology, 2022

36061987 (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."