Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.A248V
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PHGDH

NM_006623.4:p.A248V

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S2.xlsx › Mutations_in_93_WGS_samples

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT.

Liu W et al.

Frontiers in Genetics, 2022

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P19
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