Varaico: Literature-Extracted Genetic Variants

Gene:SMPD4
Variant:p.L535delFs
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SMPD4

NM_017951.5:p.L535delFs

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.

Theresia KJ et al.

Prenatal Diagnosis, 2023

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