Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.F417F
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ECEL1

NM_004826.4:p.F417F

Associated Papers

ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.

Endrakanti M et al.

American Journal of Medical Genetics. Part A, 2024

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