Varaico: Literature-Extracted Genetic Variants

Gene:ENPP1
Variant:p.R364Splc
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ENPP1

NM_006208.3:p.R364Splc

Associated Papers

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.

Dursun F et al.

Clinical Endocrinology, 2024

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.

Bitkin EÇ et al.

The Turkish Journal of Pediatrics, 2022

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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."