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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.R4014Q

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ALMS1

NM_001378454.1:p.R4014Q

hg38:chr2:73601363 G>A

Associated Papers

Importance of genetic testing in unexplained cardiac arrest.

Grondin S et al.

European Heart Journal, 2022

35352813 (PubMed )

Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5

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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."