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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.F4923_F4924del0

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RYR1

NM_000540.3:p.F4923_F4924del0

hg38:chr19:38585055 CCTTCTT>C

Associated Papers

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.

Xu L et al.

Cell Calcium, 2020

32097819 (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."