Varaico: Literature-Extracted Genetic Variants

Gene:ZMIZ1
Variant:p.Q920*
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ZMIZ1

NM_020338.4:p.Q920*

Associated Papers

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Lu G et al.

Frontiers in Genetics, 2022

35432459 (PubMed )
Supplement: Table2.xlsx › ClinVar
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