Publications:

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 112C>T; Pro38Ser

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Williamson, Kathleen A KA; Hall, H Nikki HN; Owen, Liusaidh J LJ; Livesey, Benjamin J BJ; Hanson, Isabel M IM; Adams, G G W GGW; Bodek, Simon S; Calvas, Patrick P; Castle, Bruce B; Clarke, Michael M; Deng, Alexander T AT; Edery, Patrick P; Fisher, Richard R; Gillessen-Kaesbach, Gabriele G; Heon, Elise E; Hurst, Jane J; Josifova, Dragana D; Lorenz, Birgit B; McKee, Shane S; Meire, Francoise F; Moore, Anthony T AT; Parker, Michael M; Reiff, Charlotte M CM; Self, Jay J; Tobias, Edward S ES; Verheij, Joke B G M JBGM; Willems, Marjolaine M; Williams, Denise D; van Heyningen, Veronica V; Marsh, Joseph A JA; FitzPatrick, David R DR

Publication Date: 2020-03

Variant appearance in text: FH: 112C>T

PubMed Link: 31700164

Variant Present in the following documents:

• Main text
• 41436_2019_Article_685.pdf

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