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Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant

• Authors : Federal Government of the United States; Mishra, Arun Prakash; Hartford, Suzzane

Subjects: artículo

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

• Authors : UCL - SSS/IREC/SLUC - Pôle St.-Luc; UCL - (SLuc) Centre de génétique médicale UCL; Bauwens, Miriam

Subjects: ATP-Binding Cassette Transporters; Adult; Alleles

• Source: Genetics in medicine, Vol. 21, no.8, p. 1761-1771 (2019)

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Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant

• Authors : Arun Prakash Mishra; Suzanne Hartford; Rajani Kant Chittela

Subjects: Cytology; QH573-671

• Source: Cell Death and Disease, Vol 14, Iss 11, Pp 1-10 (2023)

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

• Authors : Bauwens, Miriam; Garanto, Alejandro; Sangermano, Riccardo ...

Subjects: ATP-Binding Cassette Transporters; Adult; Alleles

• Source: Genetics in medicine, Vol. 21, no.8, p. 1761-1771 (2019)

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Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children

• Authors : Xu, H.; Zhang, H.; Yang, W.

Subjects: Genetic Predisposition to Disease

• Source: http://dx.doi.org/10.1038/ncomms8553.

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Identification of genomic regions controlling spikelet degeneration under FRIZZLE PANICLE (FZP) defect genetic background in rice.

• Authors : Wang SS; Tainan District Agricultural Research and Extension Station, No. 70, Muchang, Xinhua, Tainan, 71246, Taiwan. .; Department of Agronomy, National Taiwan University, No. 1, Sec. 4, Roosevelt Rd., Taipei, 10617, Taiwan. .

Subjects: Oryza*/Oryza*/Oryza*/genetics ; Oryza*/Oryza*/Oryza*/growth & development; Plant Proteins/Plant Proteins/Plant Proteins/genetics

• Source: Scientific reports [Sci Rep] 2024 May 30; Vol. 14 (1), pp. 12451. Date of Electronic Publication: 2024 May 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

• Authors : Kolanczyk M; 1] Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Max Planck Institute for Molecular Genetics, Berlin, Germany.; Krawitz P

Subjects: Genes, X-Linked* ; Mutation, Missense*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*diagnosis 3C syndrome

• Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 May; Vol. 23 (5), pp. 633-8. Date of Electronic Publication: 2014 Jun 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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