Publications:

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

American Journal Of Human Genetics

Yu, Hung-Chun HC; Sloan, Jennifer L JL; Scharer, Gunter G; Brebner, Alison A; Quintana, Anita M AM; Achilly, Nathan P NP; Manoli, Irini I; Coughlin, Curtis R CR; Geiger, Elizabeth A EA; Schneck, Una U; Watkins, David D; Suormala, Terttu T; Van Hove, Johan L K JL; Fowler, Brian B; Baumgartner, Matthias R MR; Rosenblatt, David S DS; Venditti, Charles P CP; Shaikh, Tamim H TH

Publication Date: 2013-09-05

Variant appearance in text: TTN: 61634G>A

PubMed Link: 24011988

Variant Present in the following documents:

• Main text

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