Varaico: Literature-Extracted Genetic Variants

Gene:ARSF
Variant:p.E186*
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ARSF

NM_001201539.2:p.E186*

Associated Papers

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Zechi-Ceide RM et al.

European Journal of Medical Genetics, 0

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