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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHH2

Variant:p.I479_R480del2

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PLEKHH2

NM_172069.4:p.I479_R480del2

hg38:chr2:43700392 GATACGA>G

Associated Papers

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Duran D et al.

Human Genome Variation, 2016

28018608 (PubMed )

Supplement: hgv201642-s3.xls › Table_S3

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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."