Publications:

The genetics of monogenic intestinal epithelial disorders.

Human Genetics

Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR

Publication Date: 2022-11-23

Variant appearance in text: SKIV2L: Gln302*

PubMed Link: 36422736

Variant Present in the following documents:

• Main text
• 439_2022_Article_2501.pdf

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A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.

Micropublication Biology

Orlando, Luisa J LJ; Yim, Matthew K MK; Hallmark, Thomson T; Cotner, Michael M; Johnson, Sean J SJ; van Hoof, Ambro A

Publication Date: 2022

Variant appearance in text: SKIV2L: Q302*

PubMed Link: 35607352

Variant Present in the following documents:

• 25789430-2022-micropub.biology.000575.pdf

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A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine

Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM

Publication Date: 2020-12-10

Variant appearance in text: SKIV2L: Gln302*; rs751074844

PubMed Link: 33303739

Variant Present in the following documents:

• Main text
• 41525_2020_Article_161.pdf
• 41525_2020_161_MOESM2_ESM.xlsx, sheet 1

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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.

Gene

Poulton, C C; Pathak, G G; Mina, K K; Lassman, T T; Azmanov, D N DN; McCormack, E E; Broley, S S; Dreyer, L L; Gration, D D; Taylor, E E; OSullivan, M M; Siafarikis, A A; Ravikumara, M M; Dawkins, H H; Pachter, N N; Baynam, G G

Publication Date: 2019-05-30

Variant appearance in text: SKIV2L: 904C>T; rs751074844

PubMed Link: 30844479

Variant Present in the following documents:

• Main text

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