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Author

P. Abou-Jaoude

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Case report Aug 2026

Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant

The clinical utility of comprehensive WES combined with segregation analysis for accurate molecular diagnosis, variant interpretation, genetic counseling, and the evaluation of additional genomic findings in rare inherited disorders is illustrated.

Tatiana Hachem, P. Abou-Jaoude, Nabiha Salem et al. · 0 citations

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