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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.Q2225*

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PLEC

NM_201384.3:p.Q2225*

hg38:chr8:143923256 G>A

Associated Papers

FGD1 Variant Associated With Aarskog-Scott Syndrome.

Zhu Y et al.

Frontiers in Pediatrics, 2022

35911831 (PubMed )

Supplement: Table_1.XLSX › Sheet1

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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."