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Pena-Shokeir-Syndrom Typ I

Gen
CHRNA1
CHRND
CHRNG
MYBPC1
RYR1
ERBB3
CNTN1
ADCY6
MUSK
RAPSN
CNTNAP1
DNM2
NUP88
GLE1
PIP5K1C
GBE1
DOK7
KIAA1109
ADGRG6
ZBTB42
KLHL40
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