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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAMDC4

Variant:p.A1124_D1125Splc

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MAMDC4

NM_206920.3:p.A1124_D1125Splc

hg38:chr9:136860560 A>G

Associated Papers

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )

Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

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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."