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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VDR

Variant:p.R343H

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VDR

NM_000376.3:p.R343H

hg38:chr12:47845002 C>T

Associated Papers

Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.

Tseng MH et al.

Scientific Reports, 2017

29127362 (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."