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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BHLHE40

Variant:p.Q35Q

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BHLHE40

NM_003670.3:p.Q35Q

hg38:chr3:4979986 A>G

Associated Papers

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.

Alves-Ferreira M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021

33461327 (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."