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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1B1

Variant:p.E64delFs

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ATP6V1B1

NM_001692.4:p.E64delFs

hg38:chr2:70958061 GA>G

Associated Papers

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

Vivante A et al.

Nephron. Physiology, 2011

21849803 (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."