Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.I386fs
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ATP6V1B1

NM_001692.4:p.I386fs

Associated Papers

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

Gómez J et al.

Pediatric Research, 2016

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

Elhayek D et al.

Bmc Medical Genetics, 2013

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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."