Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6

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Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6. / Kordes, U; Mautner, V; Oyen, F; Hagel, C; Hartmann, C; Heuser, M; Frühwald, M; Hasselblatt, M; Oehl-Huber, K; Siebert, R; Schneppenheim, R; Schüller, U.

2021.

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@misc{436ad483da274876a24bc3711c9e5b48,
title = "Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6",
author = "U Kordes and V Mautner and F Oyen and C Hagel and C Hartmann and M Heuser and M Fr{\"u}hwald and M Hasselblatt and K Oehl-Huber and R Siebert and R Schneppenheim and U Sch{\"u}ller",
year = "2021",
month = feb,
doi = "10.22541/au.161335227.74314484/v1",
language = "English",
type = "Other",

}

RIS

TY - GEN

T1 - Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6

AU - Kordes, U

AU - Mautner, V

AU - Oyen, F

AU - Hagel, C

AU - Hartmann, C

AU - Heuser, M

AU - Frühwald, M

AU - Hasselblatt, M

AU - Oehl-Huber, K

AU - Siebert, R

AU - Schneppenheim, R

AU - Schüller, U

PY - 2021/2

Y1 - 2021/2

UR - http://europepmc.org/abstract/PPR/PPR283057

U2 - 10.22541/au.161335227.74314484/v1

DO - 10.22541/au.161335227.74314484/v1

M3 - Other

ER -