Publication | Open Access
XPR1 mutations are a rare cause of primary familial brain calcification
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Citations
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References
2016
Year
Rare CauseMendelian DisorderNeurological DisorderGenetic DisorderGeneticsFragile X SpectrumNeurologyNeuroscienceBrain LesionNeuropathologyMedicineXpr1 MutationsNeurogeneticsDevelopmental Delay
| Year | Citations | |
|---|---|---|
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Sue Richards, Nazneen Aziz, Sherri J. Bale, Allelic VariantSequence VariantsMedicineGeneticsAmerican College | 2015 | 30.5K |
1989 | 2K | |
2006 | 1.9K | |
1994 | 591 | |
2003 | 451 | |
2012 | 407 | |
2013 | 324 | |
2015 | 306 | |
2012 | 275 | |
1999 | 234 |
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