Publications:

Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine

Major, Tamás T; Gindele, Réka R; Balogh, Gábor G; Bárdossy, Péter P; Bereczky, Zsuzsanna Z

Publication Date: 2021-04-14

Variant appearance in text: ENG: 781T>C

PubMed Link: 33919892

Variant Present in the following documents:

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Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

The Journal Of Molecular Diagnostics : Jmd

McDonald, Jamie J; Gedge, Friederike F; Burdette, Allene A; Carlisle, James J; Bukjiok, Changkuoth Jock CJ; Fox, Michelle M; Bayrak-Toydemir, Pinar P

Publication Date: 2009-11

Variant appearance in text: ENG: W261R

PubMed Link: 19767588

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ENG: W261R

PubMed Link: 16690726

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

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