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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTHLH

Variant:p.K49Q

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PTHLH

NM_198965.2:p.K49Q

hg38:chr12:27963727 T>G

Associated Papers

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.

Wu J et al.

Urolithiasis, 2023

37874369 (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."