Genotype-based databases for variants causing rare diseases.

Barbara Lanthaler; Stefanie Wieser; Andrea Deutschmann; Anna Schossig; Christine Fauth; Johannes Zschocke; Martina Witsch-Baumgartner

doi:10.1016/j.gene.2014.08.016

Genotype-based databases for variants causing rare diseases.

Barbara Lanthaler
, Stefanie Wieser (Co-author)
, Andrea Deutschmann
, Anna Schossig
, Christine Fauth
, Johannes Zschocke
, Martina Witsch-Baumgartner

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

10 Citations (Web of Science)

Original language	English
Pages (from-to)	136-140
Journal	GENE
Volume	550
Issue number	1
DOIs	https://doi.org/10.1016/j.gene.2014.08.016
Publication status	Published - 2014

Keywords

LEMLI-OPITZ-SYNDROME
MUTATIONS
LSDBS

Access to Document

10.1016/j.gene.2014.08.016

Cite this

Lanthaler, B., Wieser, S., Deutschmann, A., Schossig, A., Fauth, C., Zschocke, J., & Witsch-Baumgartner, M. (2014). Genotype-based databases for variants causing rare diseases. GENE , 550(1), 136-140. https://doi.org/10.1016/j.gene.2014.08.016

Lanthaler, Barbara ; Wieser, Stefanie ; Deutschmann, Andrea et al. / Genotype-based databases for variants causing rare diseases. In: GENE 2014 ; Vol. 550, No. 1. pp. 136-140.

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title = "Genotype-based databases for variants causing rare diseases.",

keywords = "LEMLI-OPITZ-SYNDROME, MUTATIONS, LSDBS",

author = "Barbara Lanthaler and Stefanie Wieser and Andrea Deutschmann and Anna Schossig and Christine Fauth and Johannes Zschocke and Martina Witsch-Baumgartner",

note = "Department of Paediatrics and Adolescent Medicine, Hospital Salzburg, Salzburg, Austria",

year = "2014",

doi = "10.1016/j.gene.2014.08.016",

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Lanthaler, B, Wieser, S, Deutschmann, A, Schossig, A, Fauth, C, Zschocke, J & Witsch-Baumgartner, M 2014, 'Genotype-based databases for variants causing rare diseases.', GENE , vol. 550, no. 1, pp. 136-140. https://doi.org/10.1016/j.gene.2014.08.016

Genotype-based databases for variants causing rare diseases. / Lanthaler, Barbara; Wieser, Stefanie (Co-author); Deutschmann, Andrea et al.
In: GENE , Vol. 550, No. 1, 2014, p. 136-140.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Genotype-based databases for variants causing rare diseases.

AU - Lanthaler, Barbara

AU - Wieser, Stefanie

AU - Deutschmann, Andrea

AU - Schossig, Anna

AU - Fauth, Christine

AU - Zschocke, Johannes

AU - Witsch-Baumgartner, Martina

N1 - Department of Paediatrics and Adolescent Medicine, Hospital Salzburg, Salzburg, Austria

PY - 2014

Y1 - 2014

KW - LEMLI-OPITZ-SYNDROME

KW - MUTATIONS

KW - LSDBS

U2 - 10.1016/j.gene.2014.08.016

DO - 10.1016/j.gene.2014.08.016

M3 - Original Article

C2 - 25111118

SN - 0378-1119

VL - 550

SP - 136

EP - 140

JO - GENE

JF - GENE

IS - 1

ER -

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J et al. Genotype-based databases for variants causing rare diseases. GENE . 2014;550(1):136-140. doi: 10.1016/j.gene.2014.08.016