Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.E195_I196Splc
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ATP6V1B1

NM_001692.4:p.E195_I196Splc

Associated Papers

Treatment and long-term outcome in primary distal renal tubular acidosis.

Lopez-Garcia SC et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R et al.

Bmc Medical Genomics, 2018

29986705 (PubMed )
Supplement: 12920_2018_375_MOESM9_ESM.xlsx › Additional_file_9

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Vivante A et al.

Nephron. Physiology, 2011

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Andreucci E et al.

Pediatric Nephrology (berlin, Germany), 2009

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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."