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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESRRA

Variant:p.A345A

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ESRRA

NM_004451.5:p.A345A

hg38:chr11:64315729 C>T

Associated Papers

A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes.

Pulli K et al.

Jci Insight, 2024

38775154 (PubMed )

Supplement: jciinsight-9-167598-s174.pdf

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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."