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   Articles with "null variants" as a keyword



AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

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recommendations! Published in 2020 at "Human Mutation"

DOI: 10.1002/humu.24051

Abstract: Null variants are prevalent within the human genome, and their accurate interpretation is critical for clinical management. In 2018, the ClinGen Sequence Variant Interpretation (SVI) Working Group refined the only criterion with a very strong… read more here.

Keywords: automatic classification; interpretation; pvs1; null variants ... See more keywords

Null variants in AGRN cause lethal fetal akinesia deformation sequence

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recommendations! Published in 2019 at "Clinical Genetics"

DOI: 10.1111/cge.13677

Abstract: We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3‐36 exons of AGRN. Pathogenic variants in AGRN have been described… read more here.

Keywords: fetal akinesia; lethal fetal; variants agrn; akinesia deformation ... See more keywords

Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

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recommendations! Published in 2022 at "Epilepsia"

DOI: 10.1111/epi.17394

Abstract: We report on an 8‐year‐old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the… read more here.

Keywords: null variants; developmental epileptic; compound heterozygous; epileptic encephalopathy ... See more keywords

Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype–Phenotype Correlation From a Case Report and Review of the Literature

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recommendations! Published in 2025 at "International Journal of Genomics"

DOI: 10.1155/ijog/2680052

Abstract: Epidermolysis bullosa (EB) is a genetically heterogeneous skin fragility disorder. Some subtypes also involve other organs, including the pulmonary, gastrointestinal, and renal systems. One severe form, junctional epidermolysis bullosa (JEB), is characterized by cleavage within… read more here.

Keywords: junctional epidermolysis; epidermolysis bullosa; null variants; pyloric atresia ... See more keywords