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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RP1

Variant:p.L920_Q921insT

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RP1

NM_006269.2:p.L920_Q921insT

hg38:chr8:54626640 T>TNNN

Associated Papers

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.

Mahmoud RAA et al.

Journal of Endocrinological Investigation, 2022

34341969 (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."