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   Articles with "variants causing" as a keyword



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Regional differences in genes and variants causing retinitis pigmentosa in Japan

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recommendations! Published in 2021 at "Japanese Journal of Ophthalmology"

DOI: 10.1007/s10384-021-00824-w

Abstract: To investigate the regional differences in the genes and variants causing retinitis pigmentosa (RP) in Japan Retrospective multicenter study In total, 1204 probands of each pedigree clinically diagnosed with nonsyndromic RP were enrolled from 5… read more here.

Keywords: variants causing; pathogenic variants; differences genes; regional differences ... See more keywords
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Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

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recommendations! Published in 2021 at "Nature Communications"

DOI: 10.1038/s41467-021-25028-1

Abstract: Embryonic aneuploidy from mis-segregation of chromosomes during meiosis causes pregnancy loss. Proper disjunction of homologous chromosomes requires the mismatch repair (MMR) genes MLH1 and MLH3, essential in mice for fertility. Variants in these genes can… read more here.

Keywords: human mlh1; variants causing; mlh1 variants; pregnancy loss ... See more keywords
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GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

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recommendations! Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-04-845545

Abstract: TO THE EDITOR: We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia and mild to moderate bleeding diathesis inherited due to missense mutations in the glucosamine (UDP- N -acetyl)-2-epimerase/ N -acetylmannosamine kinase… read more here.

Keywords: variants causing; gne variants; autosomal recessive; recessive macrothrombocytopenia ... See more keywords
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AIOLOS Variants Causing Immunodeficiency in Human and Mice

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recommendations! Published in 2022 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2022.866582

Abstract: AIOLOS is encoded by IKZF3 and is a member of the IKAROS zinc finger transcription factor family. Heterozygous missense variants in the second zinc finger of AIOLOS have recently been reported to be found in… read more here.

Keywords: aiolos; causing immunodeficiency; immunodeficiency human; aiolos variants ... See more keywords