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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH6

Variant:p.L1430V

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MYH6

NM_002471.4:p.L1430V

hg38:chr14:23388226 A>C

Associated Papers

[Vitamin E deficiency ataxia in a family with possible cardiac involvement].

Lucas-Del-Pozo S et al.

Neurologia, 0

32183996 (PubMed )

[SMART syndrome].

Martín Guerra JM et al.

Neurologia, 0

32216974 (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."