Publications:

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: KRT8: 823C>T

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: KRT8: Arg275Trp

PubMed Link: 30409984

Variant Present in the following documents:

• Main text

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Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis.

Plos One

Strnad, Pavel P; Kucukoglu, Ozlem O; Lunova, Mariia M; Guldiken, Nurdan N; Lienau, Tim C TC; Stickel, Felix F; Omary, M Bishr MB

Publication Date: 2012

Variant appearance in text: KRT8: R275W; rs199422324

PubMed Link: 22412904

Variant Present in the following documents:

• Main text
• pone.0032669.pdf

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