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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTRH1

Variant:p.L36delFs

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PTRH1

NM_001002913.3:p.L36delFs

hg38:chr9:127715184 AG>A

Associated Papers

Feline precision medicine using whole-exome sequencing identifies a novel frameshift mutation for vitamin D-dependent rickets type 2.

Habacher G et al.

Journal of Feline Medicine and Surgery, 2023

37387221 (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."