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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH2

Variant:p.L620_E631delFs

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MYH2

NM_017534.6:p.L620_E631delFs

hg38:chr17:10537237 TTCAGCAGTTTGAGCCCCAGAGAAGAGCTGAGC>T

Associated Papers

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.

Hedberg-Oldfors C et al.

Bmc Neurology, 2022

36380287 (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."