HAO1 c.289+9184A>T

Variant ID: 20-7905947-T-A

NM_017545.2(HAO1):c.289+9184A>T

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

American Journal Of Human Genetics
Bergmann, C C; Senderek, J J; Anhuf, D D; Thiel, C T CT; Ekici, A B AB; Poblete-Gutierrez, P P; van Steensel, M M; Seelow, D D; Nürnberg, G G; Schild, H H HH; Nürnberg, P P; Reis, A A; Frank, J J; Zerres, K K
Publication Date: 2006-12

Variant appearance in text: rs2423334
PubMed Link: 17186469
Variant Present in the following documents:
  • Main text
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