Varaico: Literature-Extracted Genetic Variants

Gene:WASF1
Variant:p.W161R
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WASF1

NM_003931.3:p.W161R

Associated Papers

Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.

Zhao A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

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