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. 2022 Jan 6;8:798985. doi: 10.3389/fcvm.2021.798985

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Copyright © 2022 Yang, Shaybekyan, Zhao, Kang, Fishbein, Khanlou, Alejos, Halnon, Satou, Biniwale, Lee, Van Arsdell, Nelson, Touma, the UCLA Clinical Genomics Center and the UCLA Congenital Heart Defects-BioCore Faculty.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Compound Heterozygous Variants of TSFM Revealed by Trio (Proband/Parents) Whole Exome Sequencing (WES). (A) Table summary depicts rare compound heterozygous variants in TSFM genes detected by WES. (B) Schematic representation of TSFM gene (upper) and TSFM protein (lower) and known structural motifs. Black arrows indicate exons affected by deleterious mutations. Red arrows indicate the positions of AA substitutions in TSFM protein sequence caused by TSFM variants. (C,D) Integrated genomic viewer windows depict tow heterozygous variants in TSFM in the proband genome, the maternally inherited c.997C>T (C) and the paternally inherited c.355G>C (D). (E) Sanger sequencing confirms that both TSFM variants are in trans configuration in the proband DNA.