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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP4A

Variant:p.T352_V353Splc

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ATP4A

NM_000704.3:p.T352_V353Splc

hg38:chr19:35559804 C>A

Associated Papers

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

Ruf R et al.

Pediatric Nephrology (berlin, Germany), 2003

12579397 (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."