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Table 2 Genetic information on the three participants included into this study

From: Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

 

Sex

Diagnosis

Rearrangement

Aa change

Inheritance

Reference

P1

M

ASD/ID

c.1527G > A

p.W509X

De novo

Soorya et al. 2013 [17]

P2

M

ID

c.2497delG

p.P834RfsX58

De novo

Soorya et al. 2013 [17]

P3

M

ASD/ID

c.5008A > T

p.K1670X

Not from mother

This study

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Molecular Autism

ISSN: 2040-2392