Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.P384delFs
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ATP6V1B1

NM_001692.4:p.P384delFs

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM6_ESM.xlsx › patient_10_MASTER_1_indels_

A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.

Lysenkova Wiklander M et al.

Life Science Alliance, 2024

38777370 (PubMed )
Supplement: LSA-2023-02481_TableS8.xlsx › S8._SNVs

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

Vivante A et al.

Nephron. Physiology, 2011

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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."