Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.I386insFs
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ATP6V1B1

NM_001692.4:p.I386insFs

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

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria.

Copelovitch L et al.

Ndt Plus, 2010

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

Joshua B et al.

The Journal of Laryngology and Otology, 2008

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH et al.

Journal of Medical Genetics, 2002

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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."