Varaico: Literature-Extracted Genetic Variants

Gene:TPP2
Variant:p.E278A
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TPP2

NM_001330588.2:p.E278A

Associated Papers

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Maroofian R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38054405 (PubMed )
Supplement: mmc3.xlsx › Sheet1
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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."