Publications:

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.

Cold Spring Harbor Molecular Case Studies

Mayeur, Sylvain S; Lhermitte, Benoit B; Gantzer, Justine J; Molitor, Anne A; Stemmelen, Tristan T; Meyer, Sébastien S; Kolmer, Aline A; Kurtz, Jean-Emmanuel JE; Bahram, Seiamak S; Carapito, Raphael R

Publication Date: 2023-04

Variant appearance in text: TTN: G243R

PubMed Link: 37160315

Variant Present in the following documents:

• supp_mcs.a006257_Supplemental_Material.pdf

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A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Bmc Medical Genetics

Al-Hassnan, Zuhair N ZN; Shinwari, Zarghuna Ma ZM; Wakil, Salma M SM; Tulbah, Sahar S; Mohammed, Shamayel S; Rahbeeni, Zuhair Z; Alghamdi, Mohammed M; Rababh, Monther M; Colak, Dilek D; Kaya, Namik N; Al-Fayyadh, Majid M; Alburaiki, Jehad J

Publication Date: 2016-01-14

Variant appearance in text: TTN: 727G>C; Gly243Arg

PubMed Link: 26768247

Variant Present in the following documents:

• Main text

View BVdb publication page