Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.R91C
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RAPSN

NM_005055.5:p.R91C

Associated Papers

A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing.

Xu H et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2023

37839437 (PubMed )
Supplement: supplement_1.docx

No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.

Parvizi Omran S et al.

Iranian Journal of Child Neurology, 2019

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