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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ROM1

Variant:p.S215_S221del0

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ROM1

NM_000327.4:p.S215_S221del0

hg38:chr11:62614309 CTCCTGTTGCAACCCCCACTCA>C

Associated Papers

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR et al.

Annals of Clinical and Translational Neurology, 2018

30564623 (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."