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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCHR2

Variant:p.E23del1

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MCHR2

NM_001040179.2:p.E23del1

hg38:chr6:99956078 ACTC>A

Associated Papers

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

37702302 (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."