Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.M345V
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SPATA7

NM_018418.5:p.M345V

Associated Papers

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.

Kim J et al.

Human Genomics, 2025

41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.

Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study.

Igeta H et al.

Neuropsychiatric Disease and Treatment, 2019

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