Publications:

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Iscience

Esser, Anna J AJ; Mukherjee, Srijan S; Dereven'kov, Ilia A IA; Makarov, Sergei V SV; Jacobsen, Donald W DW; Spiekerkoetter, Ute U; Hannibal, Luciana L

Publication Date: 2022-09-16

Variant appearance in text: MTHFR: 394C>T; R132*

PubMed Link: 36105582

Variant Present in the following documents:

• main.pdf

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: MTHFR: R132C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 10

View BVdb publication page