Varaico: Literature-Extracted Genetic Variants

Gene:SASS6
Variant:p.K558_V559Splc
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SASS6

NM_194292.3:p.K558_V559Splc

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

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Stark JC et al.

Genome Medicine, 2025

Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.

Kong X et al.

American Journal of Medical Genetics. Part A, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."