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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH1

Variant:p.Q1116_A1117Splc

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MYH1

NM_005963.4:p.Q1116_A1117Splc

hg38:chr17:10501500 C>T

Associated Papers

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X et al.

European Journal of Human Genetics : Ejhg, 2003

12673275 (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."