Varaico: Literature-Extracted Genetic Variants

Gene:KATNB1
Variant:p.P452S
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KATNB1

NM_005886.3:p.P452S

Associated Papers

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A et al.

Human Molecular Genetics, 2023

36067010 (PubMed )
Supplement: supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx › HI-DEPDC5_commun_variants_

Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families.

Zrzavy T et al.

Genes, 2020

32854198 (PubMed )
Supplement: genes-11-00988-s001.pdf
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