Varaico: Literature-Extracted Genetic Variants

Gene:CEBPZ
Variant:p.G998D
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CEBPZ

NM_005760.3:p.G998D

Associated Papers

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Rodríguez-García ME et al.

Human Mutation, 2022

35753050 (PubMed )
Supplement: supplement_1.pdf
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