Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

No abstract is available for this paper.

• Publication year

  2009

• Venue

  American Journal of Human Genetics

• Publication date

  2009-08-14

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ajhg.2009.07.006PMID 19646678PMCID PMC2725266
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Principles and Practice of Medical Genetics

  1992cited by this paper
• Principles and practice of medical genetics (2nd edn) edited by A.E.H. Emery and D.L. Rimoin Churchill Livingstone, 1990. £195.00 (xxi + 938 pages, Vol. 1; xxii + 2079 pages, Vol. 2) ISBN O 443 03583 0

  1991cited by this paper
• Principles and Practice of Medical Genetics

  1990cited by this paper
• The American journal of human genetics in the 1970s.

  1970cited by this paper

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