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Gene profile

FKRP

HGNC:17997 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
0Linked variants
1Associated phenotypes

Associated phenotypes

Co-mentioned in FKRP publications
PhenotypeIdentifierArticlesMentions
congenital myopathy22

Linked variants

Variants normalized to FKRP
VariantHGVS / rsIDArticlesMentions

No normalized variants are linked to this gene.

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia1
Saudi Arabia · Riyadh781

Supporting publications

2 records
  1. 2024Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.BMC neurologyPubMed ↗
  2. 2016A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Human genomicsPubMed ↗