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CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

• Authors : Barbara A Perez; Hannah K Shorrock; Monica Banez‐Coronel

Subjects: cis‐modifier; RAN translation; reduced penetrance

• Source: EMBO Molecular Medicine, Vol 13, Iss 11, Pp 1-15 (2021)

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Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.

• Authors : Locke, Jonathan M.¹ (AUTHOR) ; Dusatkova, Petra² (AUTHOR); Colclough, Kevin³ (AUTHOR)

• Source: Diabetologia. Jan2022, Vol. 65 Issue 1, p246-249. 4p.

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Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer.

• Authors : Özgöz, Asuman¹ (AUTHOR) ; Mutlu İçduygu, Fadİme² (AUTHOR); Yükseltürk, Ayşegül³ (AUTHOR)

• Source: Journal of Genetics. 2020, Vol. 99 Issue 1, p1-10. 10p.

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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

• Authors : Wigdor, EM; Samocha, KE; Eberhardt, RY

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An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.

• Authors : Chen, Run-Ze^1,2,3,4; Cheng, Xuebo^1,3,4; Tan, Yuexi^1,2,3,4

• Source: Scientific Reports. 2/12/2020, Vol. 10 Issue 1, p1-12. 12p.

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Incomplete penetrance in familial Alzheimer's disease with PSEN1 Ala260Gly mutation.

• Authors : Piaceri, I.¹ (AUTHOR); Chiari, A.² (AUTHOR); Galli, C.^1,3 (AUTHOR)

• Source: Neurological Sciences. Aug2020, Vol. 41 Issue 8, p2263-2266. 4p. 1 Diagram.

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Penetrance estimates of hereditary cancers in a population setting using UK Biobank data

• Authors : Manchanda, R; Evans, DG; Antoniou, AC

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

• Authors : Goodrich, Julia K; Singer-Berk, Moriel; Son, Rachel

Subjects: monogenic diseases; Penetrance

• Source: 12 ; 1 ; 3505 ; United States ; England

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Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations.

• Authors : Queen, Rachel A.¹; O'Keefe, Hannah^1,2; Elson, Joanna L.^1,3

Subjects: *MITOCHONDRIA; *MICROBIAL virulence; *GENOTYPES

• Source: Journal of Molecular Evolution. Jul2018, Vol. 86 Issue 6, p395-403. 9p.

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Comparison of expressivity and penetrance of the double podding trait and yield components based on reciprocal crosses of kabuli and desi chickpeas ( Cicer arietinum L.).

• Authors : Yasar, M.¹; Ceylan, F.¹; Ikten, C.²

Subjects: *CHICKPEA research; *DEHISCENCE (Botany); *PLANT genetics

• Source: Euphytica. Apr2014, Vol. 196 Issue 3, p331-339. 9p.

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