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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OCRL

Variant:p.I803_C804delFs

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OCRL

NM_000276.4:p.I803_C804delFs

hg38:chrX:129588951 ATC>A

Associated Papers

Gonadotrophin abnormalities in an infant with Lowe syndrome.

Warner BE et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2017

28469921 (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."