Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.P135A
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PSAT1

NM_058179.4:p.P135A

Associated Papers

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Turgut GT et al.

Clinical Genetics, 2024

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.

Xie MJ et al.

Plos Genetics, 2023

37812589 (PubMed )
Supplement: pgen.1010972.s017.xlsx › Table_S3
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