Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.V101D
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CLRN1

NM_174878.3:p.V101D

Associated Papers

A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.

Wang S et al.

Orphanet Journal of Rare Diseases, 2024

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