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Publisher : sociedade brasileira de genetica

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Academic Journal

The Leigh phenotype resulting from C12orf65 variants

Authors : Josef Finsterer

Subjects: Genetics; QH426-470

Source: Genetics and Molecular Biology, Vol 43, Iss 3 (2020)

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Academic Journal

Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

Authors : Angela Polizzi; Riccardina Tesse; Teresa Santostasi

Subjects: CFTR; complex allele; cystic fibrosis

Source: Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)

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Academic Journal

A Young Seedling Stripe2 phenotype in rice is caused by mutation of a chloroplast-localized nucleoside diphosphate kinase 2 required for chloroplast biogenesis

Authors : Kunneng Zhou; Jiafa Xia; Yuanlei Wang

Subjects: Chloroplast biogenesis; NDPK; Oryza sativa

Source: Genetics and Molecular Biology, Vol 40, Iss 3, Pp 630-642 (2017)

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Academic Journal

Low doses of gamma ionizing radiation increase hprt mutant frequencies of TK6 cells without triggering the mutator phenotype pathway

Authors : Flávio Monteiro Ayres; Aparecido Divino da Cruz; Patricia Steele

Subjects: mutator phenotype; hprt; microsatellite instability

Source: Genetics and Molecular Biology, Vol 29, Iss 3, Pp 558-561 (2006)

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Academic Journal

Detection of mutator phenotype in Brazilian patients with acute and chronic myeloid leukemia

Authors : Flávio Monteiro Ayres; Euza Guimarães Momotuk; Celso da Cunha Bastos

Subjects: loss of heterozygosity; microsatellite instability; mismatch repair

Source: Genetics and Molecular Biology, Vol 27, Iss 4, Pp 483-488 (2004)

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Academic Journal

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Authors : Ana Carolina Brusius-Facchin; Marina Siebert; Delva Leão

Subjects: Lysosomal storage disease; mucopolysaccharidoses; next generation sequencing

Source: Genetics and Molecular Biology, Iss 0 (2019)

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Academic Journal

Proteomic analysis of a clavata-like phenotype mutant in Brassica napus

Authors : Zhu, Keming; Zhang, Weiwei; Sarwa, Rehman

Subjects: Brassica napus; proteomic; inflorescence meristem (IM)

Source: Genetics and Molecular Biology. January 2020 43(1)

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Academic Journal

The PAC-3 transcription factor critically regulates phenotype-associated genes in Neurospora crassa

Authors : Martins, Maíra Pompeu; Martinez-Rossi, Nilce Maria; Sanches, Pablo Rodrigo

Subjects: RNA-seq; conidiation; hyphal development

Source: Genetics and Molecular Biology. January 2020 43(3)

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Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Authors : Marina Siebert; Ursula Matte; Franciele Barbosa Trapp

Subjects: 0106 biological sciences; 0301 basic medicine; lcsh:QH426-470

Source: Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019Genetics and Molecular Biology, Iss 0 (2019)Repositório Institucional da UFRGSUniversidade Federal do Rio Grande

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Academic Journal

Low doses of gamma ionizing radiation increase hprt mutant frequencies of TK6 cells without triggering the mutator phenotype pathway

Authors : Ayres, Flávio Monteiro; Cruz, Aparecido Divino da; Steele, Patricia

Subjects: mutator phenotype; hprt; microsatellite instability

Source: Genetics and Molecular Biology. January 2006 29(3)

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