Publications:

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.

Genes

Tanaka, Jocelyn J; Leeb, Tosso T; Rushton, James J; Famula, Thomas R TR; Mack, Maura M; Jagannathan, Vidhya V; Flury, Christine C; Bachmann, Iris I; Eberth, John J; McDonnell, Sue M SM; Penedo, Maria Cecilia T MCT; Bellone, Rebecca R RR

Publication Date: 2019-10-19

Variant appearance in text: SLC45A2: 457G>A

PubMed Link: 31635058

Variant Present in the following documents:

• Main text
• genes-10-00826.pdf

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Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.

Plos One

Bin, Bum-Ho BH; Bhin, Jinhyuk J; Yang, Seung Ha SH; Shin, Misun M; Nam, Yeon-Ju YJ; Choi, Dong-Hwa DH; Shin, Dong Wook DW; Lee, Ai-Young AY; Hwang, Daehee D; Cho, Eun-Gyung EG; Lee, Tae Ryong TR

Publication Date: 2015

Variant appearance in text: SLC45A2: D153N

PubMed Link: 26057890

Variant Present in the following documents:

• Main text
• pone.0129273.pdf

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Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses.

Bmc Genomics

Sundström, Elisabeth E; Imsland, Freyja F; Mikko, Sofia S; Wade, Claire C; Sigurdsson, Snaevar S; Pielberg, Gerli Rosengren GR; Golovko, Anna A; Curik, Ino I; Seltenhammer, Monika H MH; Sölkner, Johann J; Lindblad-Toh, Kerstin K; Andersson, Leif L

Publication Date: 2012-08-02

Variant appearance in text: SLC45A2: D153N

PubMed Link: 22857264

Variant Present in the following documents:

• Main text
• 1471-2164-13-365.pdf

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Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.

Genetics

Gunnarsson, Ulrika U; Hellström, Anders R AR; Tixier-Boichard, Michele M; Minvielle, Francis F; Bed'hom, Bertrand B; Ito, Shin'ichi S; Jensen, Per P; Rattink, Annemieke A; Vereijken, Addie A; Andersson, Leif L

Publication Date: 2007-02

Variant appearance in text: SLC45A2: D153N

PubMed Link: 17151254

Variant Present in the following documents:

• Main text

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Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

American Journal Of Human Genetics

Inagaki, Katsuhiko K; Suzuki, Tamio T; Shimizu, Hiroshi H; Ishii, Norihisa N; Umezawa, Yoshinori Y; Tada, Joji J; Kikuchi, Noriaki N; Takata, Minoru M; Takamori, Kenji K; Kishibe, Mari M; Tanaka, Michi M; Miyamura, Yoshinori Y; Ito, Shiro S; Tomita, Yasushi Y

Publication Date: 2004-03

Variant appearance in text: MATP: D153N

PubMed Link: 14961451

Variant Present in the following documents:

• Main text

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