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Academic Journal

Too simple, too complex, or just right? Advantages, challenges, and guidance for indicators of genetic diversity.

Authors : Hoban, Sean¹ (AUTHOR); Silva, Jessica M da^2,3 (AUTHOR) ; Hughes, Alice⁴ (AUTHOR)

Subjects: *Biodiversity; *Species diversity; Genetic variation

Source: BioScience. Apr2024, Vol. 74 Issue 4, p269-280. 12p.

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Academic Journal

The relationship between genetic diversity, function, and stability in marine foundation species.

Authors : Konefal, Anastasia¹ (AUTHOR) ; Kirkland, Amanda¹ (AUTHOR); Gilpin, Rebecca² (AUTHOR)

Subjects: *Mangrove plants; *Species; *Seagrasses

Source: BioScience. Mar2024, Vol. 74 Issue 3, p187-206. 20p.

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Academic Journal

A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Authors : Rayinda, Tuntas^1,2 (AUTHOR); McSweeney, Sheila M¹ (AUTHOR); Fassihi, Hiva¹ (AUTHOR)

Subjects: *GENETIC variation; *MISSENSE mutation; *RIBOSOMAL proteins

Source: Clinical & Experimental Dermatology. Jul2023, Vol. 48 Issue 7, p840-843. 4p. 1 Color Photograph, 1 Diagram.

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Academic Journal

Species conservation in the era of genomic science.

Authors : Cook, Carly N¹ (AUTHOR) ; Redford, Kent H² (AUTHOR); Schwartz, Mark W³ (AUTHOR)

Subjects: *Wildlife conservation; Genetic variation; Geneticists

Source: BioScience. Dec2023, Vol. 73 Issue 12, p885-890. 6p.

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Academic Journal

CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation.

Authors : Baxter, Joseph (AUTHOR); Waters, Aubri (AUTHOR)

Subjects: LEG pain; COMMON variable immunodeficiency; PRIMARY immunodeficiency diseases

Source: Military Medicine. Jul/Aug2024, Vol. 189 Issue 7/8, pe1819-e1822. 4p.

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Academic Journal

Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.

Authors : Segovia, Jen-Christina¹ (AUTHOR); Lin, Yu-Chen^2,3 (AUTHOR); Aala, Wilson⁴ (AUTHOR)

Subjects: *GENETIC variation; *INFORMED consent (Medical law); *GENE expression

Source: Clinical & Experimental Dermatology. May2023, Vol. 48 Issue 5, p536-538. 3p. 1 Color Photograph, 1 Diagram.

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Academic Journal

Practical challenges for functional validation of STAT1 gain of function genetic variants.

Authors : Albuquerque, Adriana S¹ (AUTHOR); Maimaris, Jesmeen^1,2 (AUTHOR); McKenna, Alexander J¹ (AUTHOR)

Subjects: *GENETIC variation; *STAT proteins; *PELVIC inflammatory disease

Source: Clinical & Experimental Immunology. May2023, Vol. 212 Issue 2, p166-169. 4p.

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Academic Journal

Community-sourced sightings of atypical birds can be used to understand the evolution of plumage color and pattern.

Authors : Aguillon, Stepfanie M.; Shultz, Allison J.

Subjects: BIRD evolution; FEATHERS; CAROTENOIDS

Source: Ornithology (Oxford University Press). 10/5/2023, Vol. 140 Issue 4, p1-9. 9p.

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Academic Journal

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

Authors : Maeda, Ayaka; Tsuchida, Naomi; Uchiyama, Yuri

Subjects: RISK assessment; RECEIVER operating characteristic curves; RESEARCH fundingJAPAN

Source: Rheumatology; Aug2024, Vol. 63 Issue 8, p2056-2064, 9p

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Academic Journal

Understanding variants of unknown significance and classification of genomic alterations.

Authors : Pavlick, Dean C; Frampton, Garrett M; Ross, Jeffrey R

Subjects: MICROBIAL virulence; GENOMICS; TUMOR suppressor genes

Source: Oncologist; Aug2024, Vol. 29 Issue 8, p658-666, 9p

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