Publications:

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.

Journal Of Clinical Medicine

Śmigiel, Robert R; Biela, Mateusz M; Szmyd, Krzysztof K; Błoch, Michal M; Szmida, Elżbieta E; Skiba, Paweł P; Walczak, Anna A; Gasperowicz, Piotr P; Kosińska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Biernacka, Anna A; Zielińska, Marzena M; Gołębiowski, Waldemar W; Jalowska, Agnieszka A; Ohia, Grażyna G; Głowska, Bożena B; Walas, Wojciech W; Królak-Olejnik, Barbara B; Krajewski, Paweł P; Sykut-Cegielska, Jolanta J; Sąsiadek, Maria M MM; Płoski, Rafał R

Publication Date: 2020-07-13

Variant appearance in text: PC: 1222G>C; Asp408His

PubMed Link: 32668698

Variant Present in the following documents:

• Main text
• jcm-09-02220-s001.pdf
• jcm-09-02220.pdf

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: PC: D408H

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page