Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.P390insFs
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ATP6V1B1

NM_001692.4:p.P390insFs

Associated Papers

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Said MB et al.

Molecular Genetics & Genomic Medicine, 2022

Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.

Boualla L et al.

Current Research in Translational Medicine, 0

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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."