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   Articles with "deletion variant" as a keyword



In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy

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recommendations! Published in 2025 at "Human Genome Variation"

DOI: 10.1038/s41439-025-00309-z

Abstract: Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame ABCD1 deletion c.1469_71delTGG (p.Val490del) in… read more here.

Keywords: frame deletion; variant; deletion variant; adrenoleukodystrophy ... See more keywords

Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.

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recommendations! Published in 2017 at "Animal genetics"

DOI: 10.1111/age.12556

Abstract: White spotting phenotypes in horses can range in severity from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for such phenotypes in horses. For… read more here.

Keywords: deletion variant; kit; kit gene; whole genome ... See more keywords

A novel CTLA-4 deletion variant in a child with refractory autoimmune hemolytic anemia: molecular and functional characterization

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recommendations! Published in 2025 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2025.1665184

Abstract: Objective As a critical immune checkpoint, cytotoxic T-lymphocyte-associated protein 4(CTLA-4)deficiency is a well-established cause of inborn errors of immunity. This study characterizes a novel CTLA-4 deletion variant identified in a pediatric case of refractory autoimmune… read more here.

Keywords: refractory; variant; ctla; deletion variant ... See more keywords

FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome

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recommendations! Published in 2024 at "Genes"

DOI: 10.3390/genes15111469

Abstract: Background: Fanconi syndrome is a disorder of renal proximal tubule transport characterized by metabolic acidosis, amino aciduria, glucosuria, and phosphaturia. There are acquired and hereditary forms of this disorder. A late-onset form of Fanconi syndrome… read more here.

Keywords: deletion; disorder; basenjis; fanconi syndrome ... See more keywords