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Table 7 Diseases and mutations for couples carried variants in the same gene (high risk) after ECS

From: Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology

At-risk disease

At-risk gene

Variant_female

cHGVS

Variant_female pHGVS

Variant_male

cHGVS

Variant_male pHGVS

Action taken

after ECS

Follow-up

Metachromatic leukodystrophy

ARSA

c.1344_1345insC

p.Gly449 Argfs*124

c.736C > T

p.Arg246Cys

Prenatally diagnosis

Live birth

(Normal)

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BMC Medical Genomics

ISSN: 1755-8794

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