Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7L3
Variant:p.W79*
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ATXN7L3

NM_001382309.1:p.W79*

Associated Papers

A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.

Umair M et al.

Clinical Genetics, 2026

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