Literature DB >> 32238468

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Minako Mori1,2, Asuka Hira1, Kenichi Yoshida3, Hideki Muramatsu4, Yusuke Okuno4, Yuichi Shiraishi5, Michiko Anmae6, Jun Yasuda7, Shu Tadaka7, Kengo Kinoshita7,8,9, Tomoo Osumi10, Yasushi Noguchi11, Souichi Adachi12, Ryoji Kobayashi13, Hiroshi Kawabata14, Kohsuke Imai15, Tomohiro Morio16, Kazuo Tamura6, Akifumi Takaori-Kondo2, Masayuki Yamamoto7,17, Satoru Miyano5, Seiji Kojima4, Etsuro Ito18, Seishi Ogawa3,19, Keitaro Matsuo20, Hiromasa Yabe21, Miharu Yabe21, Minoru Takata1.   

Abstract

Entities:  

Year:  2020        PMID： 32238468      PMCID： PMC7109714          DOI： 10.3324/haematol.2019.245720

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  1 in total

1.  Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Authors:  Alberto Valenzuela-Palomo; Elena Bueno-Martínez; Lara Sanoguera-Miralles; Víctor Lorca; Eugenia Fraile-Bethencourt; Ada Esteban-Sánchez; Susana Gómez-Barrero; Sara Carvalho; Jamie Allen; Alicia García-Álvarez; Pedro Pérez-Segura; Leila Dorling; Douglas F Easton; Peter Devilee; Maaike Pg Vreeswijk; Miguel de la Hoya; Eladio A Velasco
Journal:  J Pathol       Date:  2021-12-28       Impact factor: 9.883
  1 in total

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